Phenotype: Abnormality of the palpebral fissures (HP:0008050)
Associated genes and diseases:
gene_symbol: DHCR24
disease_id: OMIM:602398
disease_name: DESMOSTEROLOSIS
gene_symbol: DHCR24
disease_id: ORPHA:35107
disease_name: Desmosterolosis
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: SHOC2
disease_id: OMIM:607721
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
gene_symbol: MAN1B1
disease_id: OMIM:614202
disease_name: RAFIQ SYNDROME
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: SLC45A1
disease_id: OMIM:617532
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
gene_symbol: SZT2
disease_id: OMIM:615476
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18
gene_symbol: SZT2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: RIT1
disease_id: OMIM:615355
disease_name: NOONAN SYNDROME 8
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: EFNB1
disease_id: ORPHA:1520
disease_name: Craniofrontonasal dysplasia
CFND
CFNS
Craniofrontonasal syndrome
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: NAA20
disease_id: OMIM:619717
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:87
disease_name: Apert syndrome
ACS1
Acrocephalosyndactyly type 1
gene_symbol: FGFR2
disease_id: ORPHA:1555
disease_name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: KDM5A
disease_id: OMIM:620820
disease_name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
gene_symbol: PAX3
disease_id: ORPHA:1529
disease_name: Craniofacial-deafness-hand syndrome
CDHS
Craniofacial-hearing loss-hand syndrome
Sommer-Young-Wee-Frye syndrome
gene_symbol: PAX3
disease_id: ORPHA:896
disease_name: Waardenburg syndrome type 3
Klein-Waardenburg syndrome
WS3
Waardenburg syndrome type III
Waardenburg syndrome with limb anomalies
gene_symbol: PAX3
disease_id: OMIM:122880
disease_name: CRANIOFACIAL-DEAFNESS-HAND SYNDROME
gene_symbol: PTPN11
disease_id: OMIM:156250
disease_name: METACHONDROMATOSIS
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: RAI1
disease_id: ORPHA:477817
disease_name: PMP22-RAI1 contiguous gene duplication syndrome
17p11.2p12 microduplication syndrome
Dup(17)(p11.2p12)
Trisomy 17p11.2-p12
Trisomy 17p11.2p12
Yuan-Harel-Lupski syndrome
gene_symbol: RAI1
disease_id: ORPHA:1713
disease_name: 17p11.2 microduplication syndrome
Potocki-Lupski syndrome
Trisomy 17p11.2
gene_symbol: RAI1
disease_id: OMIM:610883
disease_name: POTOCKI-LUPSKI SYNDROME
gene_symbol: MED12L
disease_id: OMIM:618872
disease_name: NIZON-ISIDOR SYNDROME
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: H3-3A
disease_id: OMIM:619720
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: ASXL3
disease_id: ORPHA:352577
disease_name: Bainbridge-Ropers syndrome
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
gene_symbol: CSGALNACT1
disease_id: OMIM:618870
disease_name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
gene_symbol: DHODH
disease_id: OMIM:263750
disease_name: POSTAXIAL ACROFACIAL DYSOSTOSIS
gene_symbol: DHODH
disease_id: ORPHA:246
disease_name: Postaxial acrofacial dysostosis
Acrofacial dysostosis, Genee-Wiedemann type
Mandibulofacial dysostosis with postaxial limb anomalies
Miller syndrome
POADS
Postaxial acrodysostosis
gene_symbol: PACS1
disease_id: OMIM:615009
disease_name: SCHUURS-HOEIJMAKERS SYNDROME
gene_symbol: PACS1
disease_id: ORPHA:329224
disease_name: Schuurs-Hoeijmakers syndrome
PACS1-NDD
PACS1-neurodevelopmental disorder
PACS1-related syndrome
gene_symbol: KMT2E
disease_id: OMIM:618512
disease_name: O'DONNELL-LURIA-RODAN SYNDROME
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: SPECC1L
disease_id: ORPHA:1519
disease_name: SPECC1L-related hypertelorism syndrome
Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome
gene_symbol: SPECC1L
disease_id: OMIM:145420
disease_name: HYPERTELORISM, TEEBI TYPE
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: RIN2
disease_id: ORPHA:217335
disease_name: RIN2 syndrome
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: CHST14
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: CHST14
disease_id: OMIM:601776
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
gene_symbol: DSE
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: DSE
disease_id: OMIM:615539
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
gene_symbol: AFG2B
disease_id: OMIM:619616
disease_name: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: CAMK2A
disease_id: OMIM:617798
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: ATP6V0A2
disease_id: OMIM:219200
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
gene_symbol: ATP6V0A2
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
gene_symbol: GATA4
disease_id: ORPHA:251071
disease_name: 8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: TAF1
disease_id: ORPHA:480907
disease_name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: PDGFRB
disease_id: OMIM:616592
disease_name: KOSAKI OVERGROWTH SYNDROME
gene_symbol: MN1
disease_id: OMIM:618774
disease_name: CEBALID SYNDROME
gene_symbol: CTNND2
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: SEMA5A
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: PPP2R5D
disease_id: OMIM:616355
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: SPRED2
disease_id: OMIM:619745
disease_name: NOONAN SYNDROME 14
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: KCNA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AP3B2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP6V1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP6V1A
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: SLC38A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FZR1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNC2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: EEF1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: EEF1A2
disease_id: OMIM:616393
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
gene_symbol: FBXO28
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRB2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNGAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GRIN2D
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NUS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CLTC
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: WWOX
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: HCN1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NECAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PACS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PACS2
disease_id: OMIM:618067
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66
gene_symbol: AARS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN8A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABBR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DALRD3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CYFIP2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NTRK2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PARS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CDK19
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FGF12
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PPP3CA
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: TRAK1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRG2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: YWHAG
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: UBA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN3A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA2D1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CELF2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ACTL6B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FOXG1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FOXG1
disease_id: ORPHA:261144
disease_name: FOXG1 syndrome due to 14q12 microdeletion
Del(14)(q12)
Monosomy 14q12
gene_symbol: SLC1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNJ1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNB1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC13A5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CNKSR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DHDDS
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: THUMPD1
disease_id: OMIM:619989
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
gene_symbol: NR4A2
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: TBR1
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
gene_symbol: FLNA
disease_id: ORPHA:90650
disease_name: Otopalatodigital syndrome type 1
OPD I syndrome
OPD syndrome 1
Taybi syndrome
gene_symbol: FLNA
disease_id: ORPHA:90652
disease_name: Otopalatodigital syndrome type 2
OPD II syndrome
OPD syndrome 2
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: FLNA
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: FLNA
disease_id: OMIM:300048
disease_name: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
gene_symbol: IGBP1
disease_id: ORPHA:52055
disease_name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Graham-Cox syndrome
gene_symbol: IGBP1
disease_id: OMIM:300472
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: PPP2R1A
disease_id: OMIM:616362
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: DMXL2
disease_id: OMIM:618663
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81
gene_symbol: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: SUZ12
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: BRPF1
disease_id: OMIM:617333
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
gene_symbol: BRPF1
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: ABCA5
disease_id: OMIM:135400
disease_name: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA
gene_symbol: CDK10
disease_id: OMIM:617694
disease_name: AL KAISSI SYNDROME
gene_symbol: OTUD6B
disease_id: OMIM:617452
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
gene_symbol: OTUD6B
disease_id: ORPHA:505237
disease_name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
gene_symbol: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
gene_symbol: PAFAH1B1
disease_id: ORPHA:217385
disease_name: 17p13.3 microduplication syndrome
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
gene_symbol: YWHAE
disease_id: ORPHA:217385
disease_name: 17p13.3 microduplication syndrome
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
gene_symbol: TBX1
disease_id: ORPHA:1727
disease_name: 22q11.2 duplication syndrome
22q11.2 microduplication syndrome
Dup(22)(q11)
Duplication 22q11.2
Trisomy 22q11.2
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: FGF3
disease_id: OMIM:610706
disease_name: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
gene_symbol: FGF3
disease_id: ORPHA:90024
disease_name: Deafness with labyrinthine aplasia, microtia, and microdontia
Hearing loss with labyrinthine aplasia, microtia, and microdontia
LAMM syndrome
Microdontia-type I microtia-deafness syndrome
Microdontia-type I microtia-hearing loss syndrome
gene_symbol: ALG2
disease_id: ORPHA:79326
disease_name: ALG2-CDG
CDG syndrome type Ii
CDG-Ii
CDG1I
Carbohydrate deficient glycoprotein syndrome type Ii
Congenital disorder of glycosylation type 1i
Congenital disorder of glycosylation type Ii
Mannosyltransferase 2 deficiency
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: ZBTB20
disease_id: ORPHA:3042
disease_name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome
gene_symbol: BAP1
disease_id: OMIM:619762
disease_name: KURY-ISIDOR SYNDROME
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
gene_symbol: FOXP1
disease_id: ORPHA:391372
disease_name: FOXP1 Syndrome
FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
gene_symbol: FOXP1
disease_id: OMIM:613670
disease_name: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: MYH3
disease_id: OMIM:618436
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B3
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
gene_symbol: MYH3
disease_id: ORPHA:2053
disease_name: Freeman-Sheldon syndrome
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
gene_symbol: MYH3
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: ARID1B
disease_id: ORPHA:251056
disease_name: 6q25.2q25.3 microdeletion syndrome
Del(6)(q25)
Monosomy 6q25
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: DBR1
disease_id: OMIM:620510
disease_name: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
gene_symbol: NALCN
disease_id: ORPHA:2053
disease_name: Freeman-Sheldon syndrome
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
gene_symbol: NALCN
disease_id: ORPHA:562528
disease_name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
CLIFAHDD syndrome
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR1
disease_id: ORPHA:2117
disease_name: Hartsfield syndrome
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: CEP295
disease_id: OMIM:620767
disease_name: SECKEL SYNDROME 11
gene_symbol: MAP3K7
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: MAP3K7
disease_id: OMIM:617137
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 2
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: DPM1
disease_id: OMIM:608799
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
gene_symbol: SF3B4
disease_id: ORPHA:245
disease_name: Nager syndrome
Mandibulofacial dysostosis with preaxial limb anomalies
NAFD
Nager acrofacial dysostosis
Preaxial acrodysostosis
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: SMARCA2
disease_id: ORPHA:3051
disease_name: Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
gene_symbol: SLC39A13
disease_id: ORPHA:157965
disease_name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
SCD-EDS
SLC39A13-related spEDS
SLC39A13-related spondylodysplastic EDS
Spondylocheirodysplastic Ehlers-Danlos syndrome
spEDS-SLC39A13
gene_symbol: SLC39A13
disease_id: OMIM:612350
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
gene_symbol: TWIST2
disease_id: ORPHA:1807
disease_name: Focal facial dermal dysplasia type III
FFDD type III
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis syndrome
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: POLR1C
disease_id: OMIM:248390
disease_name: TREACHER COLLINS SYNDROME 3
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: SOS1
disease_id: OMIM:610733
disease_name: NOONAN SYNDROME 4
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SLC32A1
disease_id: OMIM:620774
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114
gene_symbol: DPH1
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: DPH1
disease_id: OMIM:616901
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
gene_symbol: DPH2
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
gene_symbol: MYMK
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: PURA
disease_id: ORPHA:314655
disease_name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
5q31.3 microdeletion syndrome
Del(5)(q31.3)
Monosomy 5q31.3
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: AMMECR1
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: DPYSL5
disease_id: OMIM:619435
disease_name: RITSCHER-SCHINZEL SYNDROME 4
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: SIAH1
disease_id: OMIM:619314
disease_name: BURATTI-HAREL SYNDROME
gene_symbol: MVK
disease_id: ORPHA:29
disease_name: Mevalonic aciduria
Complete mevalonate kinase deficiency
MVA
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: PUS7
disease_id: OMIM:618342
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: SATB2
disease_id: ORPHA:251019
disease_name: 2q32q33 microdeletion syndrome
Del(2)(q32)
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32q33
gene_symbol: SATB2
disease_id: OMIM:612313
disease_name: GLASS SYNDROME
gene_symbol: PRRX1
disease_id: OMIM:202650
disease_name: AGNATHIA-OTOCEPHALY COMPLEX
gene_symbol: SET
disease_id: OMIM:618106
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
gene_symbol: FBN1
disease_id: ORPHA:284979
disease_name: Neonatal Marfan syndrome
Neonatal MFS
gene_symbol: FBN1
disease_id: OMIM:616914
disease_name: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: UMPS
disease_id: ORPHA:30
disease_name: Hereditary orotic aciduria
Orotidylic decarboxylase deficiency
Uridine monophosphate synthetase deficiency
gene_symbol: ZNF148
disease_id: OMIM:617260
disease_name: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
gene_symbol: NEK9
disease_id: OMIM:617022
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 10
gene_symbol: BMP2
disease_id: ORPHA:261295
disease_name: 20p12.3 microdeletion syndrome
Del(20)(p12.3)
Monosomy 20p12.3
gene_symbol: BMP2
disease_id: OMIM:617877
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
gene_symbol: SEC24D
disease_id: OMIM:616294
disease_name: COLE-CARPENTER SYNDROME 2
gene_symbol: SEC24D
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: SNAP29
disease_id: ORPHA:66631
disease_name: CEDNIK syndrome
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
gene_symbol: SNAP29
disease_id: OMIM:609528
disease_name: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: OTUD7A
disease_id: OMIM:620790
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
gene_symbol: NF1
disease_id: OMIM:601321
disease_name: NEUROFIBROMATOSIS-NOONAN SYNDROME
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: NF1
disease_id: ORPHA:638
disease_name: Neurofibromatosis-Noonan syndrome
NFNS
Neurofibromatosis type 1-Noonan syndrome
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: KREMEN1
disease_id: OMIM:617392
disease_name: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE
gene_symbol: HBA1
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA2
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: LTBP1
disease_id: OMIM:619451
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: BRD4
disease_id: OMIM:620568
disease_name: CORNELIA DE LANGE SYNDROME 6
gene_symbol: FLCN
disease_id: OMIM:610883
disease_name: POTOCKI-LUPSKI SYNDROME
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy
gene_symbol: PYCR2
disease_id: OMIM:616420
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 10
gene_symbol: HNRNPC
disease_id: OMIM:620688
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74
gene_symbol: GORAB
disease_id: OMIM:231070
disease_name: GERODERMA OSTEODYSPLASTICUM
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TNNI2
disease_id: OMIM:601680
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B1
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: SPART
disease_id: ORPHA:101000
disease_name: Autosomal recessive spastic paraplegia type 20
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome
gene_symbol: SIN3A
disease_id: ORPHA:94065
disease_name: 15q24 microdeletion syndrome
Del(15)(q24)
Monosomy 15q24
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: ARCN1
disease_id: OMIM:617164
disease_name: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
gene_symbol: BGN
disease_id: OMIM:300989
disease_name: MEESTER-LOEYS SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: MRAS
disease_id: OMIM:618499
disease_name: NOONAN SYNDROME 11
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: MTOR
disease_id: ORPHA:457485
disease_name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
MINDS syndrome
Smith-Kingsmore syndrome
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: EFTUD2
disease_id: OMIM:610536
disease_name: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
gene_symbol: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
gene_symbol: ORC6
disease_id: OMIM:613803
disease_name: MEIER-GORLIN SYNDROME 3
gene_symbol: TWIST1
disease_id: OMIM:180750
disease_name: ROBINOW-SORAUF SYNDROME
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: RAPSN
disease_id: OMIM:618388
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 2
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: DOK7
disease_id: OMIM:618389
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 3
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: DPF2
disease_id: OMIM:618027
disease_name: COFFIN-SIRIS SYNDROME 7
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: SH3PXD2B
disease_id: ORPHA:137834
disease_name: Frank-Ter Haar syndrome
Ter Haar syndrome
gene_symbol: SH3PXD2B
disease_id: OMIM:249420
disease_name: FRANK-TER HAAR SYNDROME
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: SLC26A2
disease_id: ORPHA:628
disease_name: Diastrophic dysplasia
Diastrophic dwarfism
gene_symbol: STAC3
disease_id: ORPHA:168572
disease_name: Native American myopathy
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1B
disease_id: OMIM:618939
disease_name: TREACHER COLLINS SYNDROME 4
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: OMIM:613717
disease_name: TREACHER COLLINS SYNDROME 2
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: PIK3CA
disease_id: OMIM:602501
disease_name: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: SETD1B
disease_id: OMIM:619000
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY
gene_symbol: TNRC6B
disease_id: OMIM:619243
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: CEP152
disease_id: OMIM:613823
disease_name: SECKEL SYNDROME 5
gene_symbol: CEP152
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PPP1R15B
disease_id: OMIM:616817
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
gene_symbol: BRAF
disease_id: OMIM:613707
disease_name: LEOPARD SYNDROME 3
gene_symbol: BRAF
disease_id: OMIM:613706
disease_name: NOONAN SYNDROME 7
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: SCN4A
disease_id: OMIM:620369
disease_name: CONGENITAL MYOPATHY 22B, SEVERE FETAL
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: VPS35L
disease_id: OMIM:619135
disease_name: RITSCHER-SCHINZEL SYNDROME 3
gene_symbol: VPS35L
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: NFIB
disease_id: OMIM:618286
disease_name: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: OFD1
disease_id: OMIM:300804
disease_name: JOUBERT SYNDROME 10
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: OFD1
disease_id: ORPHA:2750
disease_name: Orofaciodigital syndrome type 1
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: OMIM:613563
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: OMIM:611554
disease_name: LEOPARD SYNDROME 2
gene_symbol: RAF1
disease_id: OMIM:611553
disease_name: NOONAN SYNDROME 5
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NRAS
disease_id: OMIM:613224
disease_name: NOONAN SYNDROME 6
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: OMIM:616559
disease_name: NOONAN SYNDROME 9
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NSRP1
disease_id: OMIM:620001
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: PTCH1
disease_id: ORPHA:77301
disease_name: Monosomy 9q22.3 syndrome
Microdeletion 9q22.3
gene_symbol: WASHC5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: WASHC5
disease_id: OMIM:220210
disease_name: RITSCHER-SCHINZEL SYNDROME 1
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: DOCK3
disease_id: OMIM:618292
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
gene_symbol: DYNC2LI1
disease_id: OMIM:617088
disease_name: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
gene_symbol: SLC19A3
disease_id: ORPHA:263410
disease_name: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
gene_symbol: TSR2
disease_id: OMIM:300946
disease_name: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: RDH11
disease_id: ORPHA:436245
disease_name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinal dystrophy-juvenile cataract-short stature syndrome
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: MAP2K2
disease_id: ORPHA:638
disease_name: Neurofibromatosis-Noonan syndrome
NFNS
Neurofibromatosis type 1-Noonan syndrome
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: SMC1A
disease_id: OMIM:300590
disease_name: CORNELIA DE LANGE SYNDROME 2
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: UBE3A
disease_id: ORPHA:238446
disease_name: 15q11q13 microduplication syndrome
15q11q13 duplication syndrome
Dup(15)(q11q13)
Trisomy 15q11q13
gene_symbol: ZNF462
disease_id: ORPHA:502430
disease_name: Weiss-Kruszka Syndrome
Metopic ridging-ptosis-facial dysmorphism syndrome
gene_symbol: ZNF462
disease_id: OMIM:618619
disease_name: WEISS-KRUSZKA SYNDROME
gene_symbol: TSPEAR
disease_id: OMIM:618180
disease_name: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: CLCN4
disease_id: OMIM:300114
disease_name: RAYNAUD-CLAES SYNDROME
gene_symbol: CRTAP
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: P4HB
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
gene_symbol: SPRED1
disease_id: OMIM:611431
disease_name: LEGIUS SYNDROME
gene_symbol: RNF135
disease_id: ORPHA:137634
disease_name: Overgrowth-macrocephaly-facial dysmorphism syndrome
gene_symbol: ALDH1A2
disease_id: OMIM:620025
disease_name: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS
gene_symbol: ZEB2
disease_id: OMIM:235730
disease_name: MOWAT-WILSON SYNDROME
gene_symbol: COL9A3
disease_id: OMIM:620022
disease_name: STICKLER SYNDROME, TYPE VI
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: NSD1
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: NFIX
disease_id: ORPHA:447980
disease_name: 19p13.3 microduplication syndrome
Dup(19)(p13.3)
gene_symbol: NFIX
disease_id: ORPHA:420179
disease_name: Malan overgrowth syndrome
Sotos syndrome 2
gene_symbol: NFIX
disease_id: OMIM:614753
disease_name: SOTOS SYNDROME 2
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: AP4E1
disease_id: OMIM:613744
disease_name: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: NECTIN1
disease_id: ORPHA:3253
disease_name: Cleft lip/palate-ectodermal dysplasia syndrome
CLPED1
Cleft lip/palate-syndactyly-pili torti syndrome
Syndactyly-ectodermal dysplasia-cleft/lip palate
Zlotogora-Ogur syndrome
gene_symbol: SETD2
disease_id: OMIM:620157
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: SETD2
disease_id: OMIM:616831
disease_name: LUSCAN-LUMISH SYNDROME
gene_symbol: CKAP2L
disease_id: ORPHA:3255
disease_name: Filippi syndrome
Type 1 syndactyly-microcephaly-intellectual disability syndrome
gene_symbol: AMPD2
disease_id: OMIM:615809
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
gene_symbol: COG1
disease_id: OMIM:611209
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
gene_symbol: COG1
disease_id: ORPHA:263508
disease_name: COG1-CDG
CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg
gene_symbol: LRP4
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: LRP4
disease_id: OMIM:212780
disease_name: CENANI-LENZ SYNDACTYLY SYNDROME
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: RPS6KA3
disease_id: ORPHA:276630
disease_name: Symptomatic form of Coffin-Lowry syndrome in female carriers
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: CHRNG
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: SETD1A
disease_id: OMIM:619056
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: SETD5
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: SETD5
disease_id: OMIM:615761
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
gene_symbol: BUB3
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: OMIM:614114
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
gene_symbol: TRIP13
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1B
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: UBR7
disease_id: OMIM:619189
disease_name: LI-CAMPEAU SYNDROME
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: LRP2
disease_id: ORPHA:2143
disease_name: Donnai-Barrow syndrome
DBS/FOAR syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
FOAR syndrome
Facio-oculo-acoustico-renal syndrome
Holmes-Schepens syndrome
Syndrome of ocular and facial anomalies, telecanthus and deafness
Syndrome of ocular and facial anomalies, telecanthus and hearing loss
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
gene_symbol: COL11A1
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: COL11A2
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: ATP6V1B2
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNH1
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNN3
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: RPS28
disease_id: OMIM:606164
disease_name: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
gene_symbol: LDHD
disease_id: OMIM:245450
disease_name: D-LACTIC ACIDURIA WITH GOUT
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: SOX5
disease_id: OMIM:616803
disease_name: LAMB-SHAFFER SYNDROME
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: UNC80
disease_id: OMIM:616801
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: PGM2L1
disease_id: OMIM:620191
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: MAF
disease_id: ORPHA:1272
disease_name: Aymé-Gripp syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: TMCO1
disease_id: ORPHA:1394
disease_name: Cerebrofaciothoracic dysplasia
Pascual-Castroviejo syndrome type 1
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: WAC
disease_id: ORPHA:284169
disease_name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
10p12p11 microdeletion syndrome
Del(10)(p11.21p12.31)
Deletion 10p11.21p12.31
Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion
Monosomy 10p11.21p12.31
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: CBS
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: PEX3
disease_id: OMIM:614882
disease_name: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: EZH2
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: ATR
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: CENPE
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CPAP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PCNT
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: RBBP8
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: NUP85
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: ATRIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: TRAIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: DNA2
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PLK4
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: VMA22
disease_id: OMIM:616828
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
gene_symbol: FBXO31
disease_id: OMIM:615979
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: PRPS1
disease_id: OMIM:300661
disease_name: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
gene_symbol: SCARF2
disease_id: ORPHA:2460
disease_name: Van den Ende-Gupta syndrome
Marden-Walker-like syndrome
VDEGS
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: GMNN
disease_id: OMIM:616835
disease_name: MEIER-GORLIN SYNDROME 6
gene_symbol: FGD1
disease_id: ORPHA:915
disease_name: Aarskog-Scott syndrome
Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: JARID2
disease_id: OMIM:620098
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: KPTN
disease_id: OMIM:615637
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
gene_symbol: KPTN
disease_id: ORPHA:397612
disease_name: Macrocephaly-developmental delay syndrome
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: KDM1A
disease_id: OMIM:616728
disease_name: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
gene_symbol: KDM1A
disease_id: ORPHA:477993
disease_name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: NOTCH3
disease_id: OMIM:130720
disease_name: LATERAL MENINGOCELE SYNDROME
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: DDX59
disease_id: OMIM:174300
disease_name: OROFACIODIGITAL SYNDROME V
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: CDC42
disease_id: ORPHA:487796
disease_name: Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
gene_symbol: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: MYMX
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: SLC9A7
disease_id: OMIM:301024
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108
gene_symbol: HS6ST2
disease_id: OMIM:301025
disease_name: PAGANINI-MIOZZO SYNDROME
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: DYNC1H1
disease_id: OMIM:614563
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: CDH2
disease_id: OMIM:618929
disease_name: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME
gene_symbol: MSL3
disease_id: OMIM:301032
disease_name: BASILICATA-AKHTAR SYNDROME
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: OSGEP
disease_id: OMIM:617729
disease_name: GALLOWAY-MOWAT SYNDROME 3
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: SNRPB
disease_id: OMIM:117650
disease_name: CEREBROCOSTOMANDIBULAR SYNDROME
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
gene_symbol: DYRK1A
disease_id: OMIM:614104
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: PKDCC
disease_id: OMIM:618821
disease_name: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: CENPT
disease_id: OMIM:618702
disease_name: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES
gene_symbol: PTH1R
disease_id: ORPHA:33067
disease_name: Metaphyseal chondrodysplasia, Jansen type
gene_symbol: SPOP
disease_id: OMIM:618828
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 1
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: KCNE5
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: ACSL4
disease_id: ORPHA:86818
disease_name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
AMME complex
AMME syndrome
ATS-MR
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: RNU4ATAC
disease_id: OMIM:616651
disease_name: ROIFMAN SYNDROME
gene_symbol: RNU4ATAC
disease_id: ORPHA:2636
disease_name: Microcephalic osteodysplastic primordial dwarfism types I and III
MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
gene_symbol: DPYD
disease_id: ORPHA:1675
disease_name: Dihydropyrimidine dehydrogenase deficiency
Familial pyrimidinemia
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: FREM1
disease_id: OMIM:614485
disease_name: TRIGONOCEPHALY 2
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: MPDZ
disease_id: OMIM:615219
disease_name: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: KCNMA1
disease_id: OMIM:618729
disease_name: LIANG-WANG SYNDROME
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: SPIN4
disease_id: OMIM:301114
disease_name: LUI-JEE-BARON SYNDROME
gene_symbol: PITX1
disease_id: OMIM:119800
disease_name: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
gene_symbol: ABAT
disease_id: OMIM:613163
disease_name: GABA-TRANSAMINASE DEFICIENCY
gene_symbol: KIF11
disease_id: OMIM:152950
disease_name: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: ZIC1
disease_id: OMIM:618736
disease_name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: NOVA2
disease_id: OMIM:618859
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: ARHGEF2
disease_id: OMIM:617523
disease_name: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
gene_symbol: MYOD1
disease_id: OMIM:618975
disease_name: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
gene_symbol: RBMX
disease_id: OMIM:300238
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
gene_symbol: RBMX
disease_id: ORPHA:85286
disease_name: X-linked intellectual disability, Shashi type
Syndromic X-linked intellectual disability type 11
gene_symbol: ALG14
disease_id: OMIM:619036
disease_name: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: BCR
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: CRKL
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: DCHS1
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: MUSK
disease_id: OMIM:208150
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 1
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: FAT4
disease_id: OMIM:616006
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2
gene_symbol: FAT4
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: TXNL4A
disease_id: OMIM:608572
disease_name: BURN-MCKEOWN SYNDROME
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: SMAD4
disease_id: ORPHA:2588
disease_name: Myhre syndrome
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre-LAPS syndrome
Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
gene_symbol: UGDH
disease_id: OMIM:618792
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
gene_symbol: DGCR8
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR6
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: ESS2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: PIEZO2
disease_id: ORPHA:2461
disease_name: Marden-Walker syndrome
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: GPKOW
disease_id: ORPHA:2570
disease_name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Morse-Rawnsley-Sargent syndrome
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: ERCC1
disease_id: OMIM:610758
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 4
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: MYL11
disease_id: OMIM:619110
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1C
gene_symbol: RAB18
disease_id: OMIM:614222
disease_name: WARBURG MICRO SYNDROME 3
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: DDR2
disease_id: OMIM:618175
disease_name: WARBURG-CINOTTI SYNDROME
gene_symbol: ADARB1
disease_id: OMIM:618862
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: HHAT
disease_id: OMIM:600092
disease_name: NIVELON-NIVELON-MABILLE SYNDROME
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: PEX5
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PQBP1
disease_id: ORPHA:93950
disease_name: X-linked intellectual disability, Sutherland-Haan type
gene_symbol: PQBP1
disease_id: ORPHA:93947
disease_name: X-linked intellectual disability, Golabi-Ito-Hall type
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: CHAMP1
disease_id: OMIM:616579
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: PEX1
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PIGV
disease_id: OMIM:239300
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: PEX7
disease_id: OMIM:215100
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: TFAP2A
disease_id: ORPHA:1297
disease_name: Branchio-oculo-facial syndrome
BOFS
gene_symbol: CERT1
disease_id: OMIM:616351
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
gene_symbol: TBCK
disease_id: ORPHA:488632
disease_name: TBCK-related intellectual disability syndrome
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: UBE3B
disease_id: ORPHA:2707
disease_name: Oculocerebrofacial syndrome, Kaufman type
gene_symbol: UBE3B
disease_id: OMIM:244450
disease_name: KAUFMAN OCULOCEREBROFACIAL SYNDROME
gene_symbol: CHD5
disease_id: OMIM:619873
disease_name: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
gene_symbol: HBB
disease_id: ORPHA:231226
disease_name: Dominant beta-thalassemia
Inclusion body beta-thalassemia
gene_symbol: MFSD2A
disease_id: OMIM:616486
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: MFSD2A
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: H4C11
disease_id: OMIM:619759
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: ZNF526
disease_id: OMIM:619877
disease_name: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: ANK1
disease_id: ORPHA:251066
disease_name: 8p11.2 deletion syndrome
Del(8)(p11.2)
Monosomy 8p11.2
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: ATAD3A
disease_id: OMIM:617183
disease_name: HAREL-YOON SYNDROME
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: ADAT3
disease_id: OMIM:615286
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: CNOT3
disease_id: OMIM:618672
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: MEF2C
disease_id: ORPHA:228384
disease_name: 5q14.3 microdeletion syndrome
Del(5)(q14.3)
Monosomy 5q14.3
gene_symbol: MEF2C
disease_id: OMIM:613443
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: CDK13
disease_id: OMIM:617360
disease_name: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: ALX4
disease_id: ORPHA:228390
disease_name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia type 2
Frontonasal dysplasia with alopecia and genital abnomality
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: U2AF2
disease_id: OMIM:620535
disease_name: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: CASP2
disease_id: OMIM:620653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY
gene_symbol: PIGB
disease_id: OMIM:618580
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: PRKAR1B
disease_id: OMIM:619680
disease_name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: DLG3
disease_id: OMIM:300850
disease_name: MENTAL RETARDATION, X-LINKED 90
gene_symbol: LMBRD2
disease_id: OMIM:619694
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: MED13L
disease_id: ORPHA:369891
disease_name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
MED13L-related intellectual disability syndrome
gene_symbol: MED13L
disease_id: OMIM:616789
disease_name: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
gene_symbol: DYNC1I2
disease_id: OMIM:618492
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: MYCN
disease_id: OMIM:164280
disease_name: FEINGOLD SYNDROME 1
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: ZMYND11
disease_id: OMIM:616083
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: PLPBP
disease_id: OMIM:617290
disease_name: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
gene_symbol: POLR3GL
disease_id: OMIM:619234
disease_name: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
gene_symbol: CTU2
disease_id: OMIM:618142
disease_name: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
gene_symbol: C2CD3
disease_id: OMIM:615948
disease_name: OROFACIODIGITAL SYNDROME XIV
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: ADAMTS3
disease_id: OMIM:618154
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
gene_symbol: CCDC32
disease_id: OMIM:619123
disease_name: CARDIOFACIONEURODEVELOPMENTAL SYNDROME
gene_symbol: AGR2
disease_id: OMIM:620233
disease_name: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: HDAC4
disease_id: ORPHA:1001
disease_name: 2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
gene_symbol: COPB1
disease_id: OMIM:619255
disease_name: BARALLE-MACKEN SYNDROME
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: NBN
disease_id: ORPHA:647
disease_name: Nijmegen breakage syndrome
AT V1
Ataxia-telangiectasia, variant 1
Berlin breakage syndrome
Immunodeficiency-microcephaly-chromosomal instability syndrome
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
NBS
Seemanova syndrome type 2
gene_symbol: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: TOE1
disease_id: ORPHA:284339
disease_name: Pontocerebellar hypoplasia type 7
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
gene_symbol: MINPP1
disease_id: ORPHA:284339
disease_name: Pontocerebellar hypoplasia type 7
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
gene_symbol: AGO2
disease_id: OMIM:619149
disease_name: LESSEL-KREIENKAMP SYNDROME
gene_symbol: IGF1R
disease_id: OMIM:270450
disease_name: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: RAD21
disease_id: OMIM:614701
disease_name: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: TRAPPC10
disease_id: OMIM:620027
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY
gene_symbol: TRAPPC10
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: XRCC4
disease_id: ORPHA:99812
disease_name: LIG4 syndrome
DNA ligase IV deficiency
Ligase 4 syndrome
gene_symbol: LIG4
disease_id: ORPHA:99812
disease_name: LIG4 syndrome
DNA ligase IV deficiency
Ligase 4 syndrome
gene_symbol: LIG4
disease_id: OMIM:606593
disease_name: LIG4 SYNDROME
gene_symbol: NFIA
disease_id: OMIM:613735
disease_name: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: OMIM:615828
disease_name: VULTO-VAN SILFHOUT-DE VRIES SYNDROME
gene_symbol: CD96
disease_id: OMIM:211750
disease_name: C SYNDROME
gene_symbol: CD96
disease_id: ORPHA:1308
disease_name: C syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: OMIM:615716
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGL
disease_id: ORPHA:3474
disease_name: CHIME syndrome
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
gene_symbol: LMNB1
disease_id: OMIM:619179
disease_name: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: ZNF292
disease_id: OMIM:619188
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: UQCC2
disease_id: OMIM:615824
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: SEPTIN9
disease_id: OMIM:162100
disease_name: AMYOTROPHY, HEREDITARY NEURALGIC
gene_symbol: NR2F1
disease_id: ORPHA:401777
disease_name: Optic atrophy-intellectual disability syndrome
BBSOAS
Bosch-Boonstra-Schaaf optic atrophy syndrome
gene_symbol: NR2F1
disease_id: OMIM:615722
disease_name: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME
gene_symbol: PAK3
disease_id: OMIM:300558
disease_name: MENTAL RETARDATION, X-LINKED 30
gene_symbol: PEX6
disease_id: OMIM:614862
disease_name: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
gene_symbol: PEX6
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: ADAMTSL2
disease_id: OMIM:231050
disease_name: GELEOPHYSIC DYSPLASIA 1
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: DPH5
disease_id: OMIM:620070
disease_name: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: NARS1
disease_id: OMIM:619092
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: MTSS2
disease_id: OMIM:620086
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES
gene_symbol: ZIC2
disease_id: OMIM:609637
disease_name: HOLOPROSENCEPHALY 5
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: THOC6
disease_id: OMIM:613680
disease_name: BEAULIEU-BOYCOTT-INNES SYNDROME
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: PEX26
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX19
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX2
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX11B
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX16
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX12
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX13
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX14
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX10
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: RAB11B
disease_id: OMIM:617807
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
gene_symbol: IFT57
disease_id: OMIM:617927
disease_name: OROFACIODIGITAL SYNDROME XVIII
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: BLTP1
disease_id: OMIM:617822
disease_name: ALKURAYA-KUCINSKAS SYNDROME
gene_symbol: MCTP2
disease_id: ORPHA:1596
disease_name: Distal deletion 15q syndrome
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: MRPS2
disease_id: OMIM:617950
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: DONSON
disease_id: OMIM:617604
disease_name: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
gene_symbol: PRDM13
disease_id: OMIM:619909
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 17
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: WASF1
disease_id: OMIM:618707
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
gene_symbol: STEEP1
disease_id: OMIM:301013
disease_name: MENTAL RETARDATION, X-LINKED 107
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: QRICH1
disease_id: OMIM:617982
disease_name: VERVERI-BRADY SYNDROME
gene_symbol: TBX6
disease_id: ORPHA:1797
disease_name: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysplasia
gene_symbol: ASPM
disease_id: OMIM:608716
disease_name: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: ASPM
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: TRIP12
disease_id: OMIM:617752
disease_name: CLARK-BARAITSER SYNDROME
gene_symbol: DLX4
disease_id: OMIM:616788
disease_name: OROFACIAL CLEFT 15
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CNOT2
disease_id: OMIM:618608
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES
gene_symbol: COPB2
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CIT
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: KIF14
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: WDR62
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: TRAPPC14
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: SASS6
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: PDCD6IP
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: MCM7
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CEP63
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: METTL5
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: NUP37
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: NCAPD3
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: SARS1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CDK5RAP2
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: MCPH1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: STIL
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: ANKLE2
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: WARS1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: PHC1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: TAF13
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CEP135
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: KNL1
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: CDK6
disease_id: ORPHA:2512
disease_name: Autosomal recessive primary microcephaly
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
gene_symbol: PHF8
disease_id: OMIM:300263
disease_name: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: IL1RAPL1
disease_id: OMIM:300143
disease_name: MENTAL RETARDATION, X-LINKED 21
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: TUBGCP2
disease_id: OMIM:618737
disease_name: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
gene_symbol: KAT8
disease_id: OMIM:618974
disease_name: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
gene_symbol: CCNK
disease_id: OMIM:618147
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: CLP1
disease_id: ORPHA:411493
disease_name: Pontocerebellar hypoplasia type 10
CLP1-related pontocerebellar hypoplasia
PCH10
gene_symbol: CLP1
disease_id: OMIM:615803
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 10
gene_symbol: PIK3R2
disease_id: OMIM:603387
disease_name: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
gene_symbol: CAMK2G
disease_id: OMIM:618522
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59
gene_symbol: FTSJ1
disease_id: OMIM:309549
disease_name: MENTAL RETARDATION, X-LINKED 9
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: CUX1
disease_id: OMIM:618330
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: ARX
disease_id: OMIM:300419
disease_name: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
gene_symbol: BMP1
disease_id: OMIM:614856
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIII
gene_symbol: PCLO
disease_id: OMIM:608027
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 3
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
gene_symbol: NSDHL
disease_id: OMIM:300831
disease_name: CK SYNDROME
gene_symbol: NSDHL
disease_id: ORPHA:251383
disease_name: CK syndrome
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: NSD2
disease_id: OMIM:619695
disease_name: RAUCH-STEINDL SYNDROME
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: AGO1
disease_id: OMIM:620292
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
gene_symbol: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: MYT1L
disease_id: ORPHA:647799
disease_name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
MYT1L-associated neurodevelopmental disorder
gene_symbol: PHIP
disease_id: ORPHA:589905
disease_name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Chung-Jansen syndrome
DIDOD
gene_symbol: CHD1
disease_id: OMIM:617682
disease_name: PILAROWSKI-BJORNSSON SYNDROME
gene_symbol: CHD1
disease_id: ORPHA:529965
disease_name: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Pilarowski-Bjornsson syndrome
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: SYT1
disease_id: ORPHA:522077
disease_name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
gene_symbol: KATNB1
disease_id: OMIM:616212
disease_name: LISSENCEPHALY 6 WITH MICROCEPHALY
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: IFT74
disease_id: OMIM:619582
disease_name: JOUBERT SYNDROME 40
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: SIM1
disease_id: ORPHA:171829
disease_name: 6q16 microdeletion syndrome
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: GON7
disease_id: OMIM:619603
disease_name: GALLOWAY-MOWAT SYNDROME 9
gene_symbol: ANKRD17
disease_id: OMIM:619504
disease_name: CHOPRA-AMIEL-GORDON SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: DNM1
disease_id: OMIM:620352
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: KLF13
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: CHRNA7
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: STAG2
disease_id: ORPHA:521258
disease_name: Xq25 microduplication syndrome
Dup(X)(q25)
Xq25 microtriplication
gene_symbol: LARP7
disease_id: OMIM:615071
disease_name: ALAZAMI SYNDROME
gene_symbol: LARP7
disease_id: ORPHA:319671
disease_name: Alazami syndrome
Microcephalic primordial dwarfism, Alazami type
gene_symbol: ALDH1A3
disease_id: OMIM:615113
disease_name: MICROPHTHALMIA, ISOLATED 8
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: SNX14
disease_id: ORPHA:397709
disease_name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: NUAK2
disease_id: OMIM:619452
disease_name: ANENCEPHALY 2
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: TMEM107
disease_id: OMIM:617563
disease_name: OROFACIODIGITAL SYNDROME XVI
gene_symbol: RBM10
disease_id: OMIM:311900
disease_name: TARP SYNDROME
gene_symbol: RBM10
disease_id: ORPHA:2886
disease_name: TARP syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: MADD
disease_id: OMIM:619005
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
gene_symbol: DDX3X
disease_id: ORPHA:3338
disease_name: Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
gene_symbol: ZBTB18
disease_id: OMIM:612337
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
gene_symbol: CLTCL1
disease_id: ORPHA:453510
disease_name: Congenital insensitivity to pain with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
gene_symbol: DRG1
disease_id: OMIM:620641
disease_name: TAN-ALMURSHEDI SYNDROME
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: SOX11
disease_id: OMIM:615866
disease_name: COFFIN-SIRIS SYNDROME 9
gene_symbol: RBPJ
disease_id: OMIM:614814
disease_name: ADAMS-OLIVER SYNDROME 3
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: TRMT1
disease_id: OMIM:618302
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
gene_symbol: SLC6A17
disease_id: ORPHA:457212
disease_name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
gene_symbol: SLC6A17
disease_id: OMIM:616269
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
gene_symbol: SRCAP
disease_id: OMIM:619595
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
gene_symbol: GABRA3
disease_id: OMIM:301091
disease_name: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES
gene_symbol: MED13
disease_id: OMIM:618009
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: TENM3
disease_id: OMIM:615145
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: B9D2
disease_id: OMIM:614175
disease_name: MECKEL SYNDROME, TYPE 10
gene_symbol: MAPKAPK5
disease_id: OMIM:619869
disease_name: NEUROCARDIOFACIODIGITAL SYNDROME
gene_symbol: DOCK6
disease_id: OMIM:614219
disease_name: ADAMS-OLIVER SYNDROME 2
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: EHMT1
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: KMT2C
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: CREBBP
disease_id: ORPHA:592574
disease_name: Menke-Hennekam syndrome
gene_symbol: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: RAC1
disease_id: ORPHA:500159
disease_name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom