Phenotype: High forehead (HP:0000348)
Associated genes and diseases:
gene_symbol: IGBP1
disease_id: OMIM:300472
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
gene_symbol: IGBP1
disease_id: ORPHA:52055
disease_name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Graham-Cox syndrome
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
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: CCND2
disease_id: ORPHA:83473
disease_name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
MPPH syndrome
gene_symbol: PIK3R2
disease_id: ORPHA:83473
disease_name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
MPPH syndrome
gene_symbol: AKT3
disease_id: ORPHA:83473
disease_name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
MPPH syndrome
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
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: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: UBA2
disease_id: OMIM:619959
disease_name: ACCES SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:93260
disease_name: Pfeiffer syndrome type 3
gene_symbol: FGFR2
disease_id: ORPHA:93258
disease_name: Pfeiffer syndrome type 1
Classic Pfeiffer syndrome
gene_symbol: FGFR2
disease_id: ORPHA:93259
disease_name: Pfeiffer syndrome type 2
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:168624
disease_name: Familial scaphocephaly syndrome, McGillivray type
Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR2
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: PEX5
disease_id: OMIM:202370
disease_name: PEROXISOME BIOGENESIS DISORDER 2B
gene_symbol: PEX5
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: WNK3
disease_id: OMIM:309610
disease_name: PRIETO X-LINKED MENTAL RETARDATION 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: GLI3
disease_id: ORPHA:380
disease_name: Greig cephalopolysyndactyly syndrome
GCPS
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: H3-3B
disease_id: OMIM:619721
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
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: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: KMT5B
disease_id: OMIM:617788
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
gene_symbol: DIS3L2
disease_id: ORPHA:2849
disease_name: Perlman syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
gene_symbol: EXT2
disease_id: ORPHA:466926
disease_name: Seizures-scoliosis-macrocephaly syndrome
SSM syndrome
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: PEX1
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: FGFR3
disease_id: ORPHA:93262
disease_name: Crouzon syndrome-acanthosis nigricans syndrome
Crouzon-dermoskeletal syndrome
gene_symbol: FGFR3
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: ARX
disease_id: OMIM:300215
disease_name: LISSENCEPHALY, X-LINKED, 2
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: CAMK2G
disease_id: OMIM:618522
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS 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: NXN
disease_id: OMIM:618529
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: MED12
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: PDCD6IP
disease_id: OMIM:620047
disease_name: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: FGFR1
disease_id: ORPHA:93258
disease_name: Pfeiffer syndrome type 1
Classic Pfeiffer syndrome
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: GATA4
disease_id: ORPHA:251071
disease_name: 8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1
gene_symbol: AGO1
disease_id: OMIM:620292
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
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: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
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: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
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: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: NSD2
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: NSD2
disease_id: OMIM:619695
disease_name: RAUCH-STEINDL SYNDROME
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: 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: BUB1B
disease_id: OMIM:257300
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
gene_symbol: CTNND1
disease_id: OMIM:617681
disease_name: BLEPHAROCHEILODONTIC SYNDROME 2
gene_symbol: GH1
disease_id: OMIM:262400
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
gene_symbol: WDR37
disease_id: OMIM:618652
disease_name: NEUROOCULOCARDIOGENITOURINARY SYNDROME
gene_symbol: KMT2A
disease_id: ORPHA:319182
disease_name: Wiedemann-Steiner syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
gene_symbol: CARS1
disease_id: OMIM:618891
disease_name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
gene_symbol: PURA
disease_id: ORPHA:438216
disease_name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
gene_symbol: ACTB
disease_id: OMIM:607371
disease_name: DYSTONIA, JUVENILE-ONSET
gene_symbol: ACTB
disease_id: ORPHA:79107
disease_name: Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: TWIST1
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: SATB2
disease_id: OMIM:612313
disease_name: GLASS SYNDROME
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: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
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: DNM1
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: 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: 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: 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: 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: ATP1A3
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
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: 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: ATP1A2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
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: CACNA1A
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
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: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
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: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: PEX12
disease_id: OMIM:614859
disease_name: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
gene_symbol: PEX12
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: TRPV4
disease_id: ORPHA:2635
disease_name: Metatropic dysplasia
Metatropic dwarfism
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
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: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
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: PAFAH1B1
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
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: YWHAE
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: PIK3CA
disease_id: ORPHA:60040
disease_name: Megalencephaly-capillary malformation-polymicrogyria syndrome
MCAP
MCM
MCMTC
Macrocephaly-capillary malformation syndrome
Macrocephaly-cutis marmorata telangiectatica congenita syndrome
Megalencephaly-capillary malformation syndrome
Megalencephaly-cutis marmorata telangiectatica congenita syndrome
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX2
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: 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: UNC80
disease_id: OMIM:616801
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
gene_symbol: SLC2A1
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SCN2A
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: MT-TL2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: RHOBTB2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SLC1A3
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
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: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
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: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: DPH5
disease_id: OMIM:620070
disease_name: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: THOC6
disease_id: ORPHA:363444
disease_name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
BBIS
Beaulieu-Boycott-Innes syndrome
gene_symbol: THOC6
disease_id: OMIM:613680
disease_name: BEAULIEU-BOYCOTT-INNES SYNDROME
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: AP1S2
disease_id: ORPHA:85329
disease_name: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC 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: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: IFT52
disease_id: OMIM:617102
disease_name: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
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: TCF20
disease_id: OMIM:618430
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: ALG11
disease_id: OMIM:613661
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
gene_symbol: ALG11
disease_id: ORPHA:280071
disease_name: ALG11-CDG
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
gene_symbol: PEX26
disease_id: OMIM:614872
disease_name: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
gene_symbol: PEX26
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: TET3
disease_id: OMIM:618798
disease_name: BECK-FAHRNER SYNDROME
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: MEF2C
disease_id: ORPHA:228384
disease_name: 5q14.3 microdeletion syndrome
Del(5)(q14.3)
Monosomy 5q14.3
gene_symbol: PEX19
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: PEX3
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX3
disease_id: OMIM:614882
disease_name: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
gene_symbol: PEX3
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX3
disease_id: OMIM:617370
disease_name: PEROXISOME BIOGENESIS DISORDER 10B
gene_symbol: PEX16
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: PEX6
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: PEX11B
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: PEX13
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX13
disease_id: OMIM:614883
disease_name: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
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:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX14
disease_id: OMIM:614887
disease_name: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
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:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
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: MAN2C1
disease_id: OMIM:619775
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION 2
gene_symbol: CPAP
disease_id: OMIM:613676
disease_name: SECKEL SYNDROME 4
gene_symbol: RBM8A
disease_id: ORPHA:3320
disease_name: Thrombocytopenia-absent radius syndrome
TAR syndrome
gene_symbol: ORAI1
disease_id: ORPHA:3204
disease_name: Stormorken-Sjaastad-Langslet syndrome
Stormorken syndrome
Thrombocytopathy-asplenia-miosis syndrome
gene_symbol: STIM1
disease_id: ORPHA:3204
disease_name: Stormorken-Sjaastad-Langslet syndrome
Stormorken syndrome
Thrombocytopathy-asplenia-miosis syndrome
gene_symbol: ZIC2
disease_id: OMIM:609637
disease_name: HOLOPROSENCEPHALY 5
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: PHIP
disease_id: OMIM:617991
disease_name: CHUNG-JANSEN SYNDROME
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: SETD2
disease_id: OMIM:616831
disease_name: LUSCAN-LUMISH SYNDROME
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: EXOSC1
disease_id: OMIM:619304
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F
gene_symbol: GMNN
disease_id: OMIM:616835
disease_name: MEIER-GORLIN SYNDROME 6
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: CTCF
disease_id: ORPHA:363611
disease_name: CTCF-related neurodevelopmental disorder
gene_symbol: FBN1
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: SKI
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: RAP1GDS1
disease_id: OMIM:620655
disease_name: ALFADHEL SYNDROME
gene_symbol: SYT1
disease_id: OMIM:618218
disease_name: BAKER-GORDON SYNDROME
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: ZC4H2
disease_id: OMIM:301041
disease_name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
gene_symbol: WDR4
disease_id: OMIM:618346
disease_name: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS
gene_symbol: STRADA
disease_id: ORPHA:500533
disease_name: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
PMSE syndrome
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: ZIC1
disease_id: OMIM:618736
disease_name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: COX7B
disease_id: OMIM:300887
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
gene_symbol: SETD5
disease_id: OMIM:615761
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
gene_symbol: NRAS
disease_id: OMIM:613224
disease_name: NOONAN SYNDROME 6
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: TBCE
disease_id: ORPHA:2323
disease_name: Sanjad-Sakati syndrome
HRD syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Richardson-Kirk syndrome
SSS
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: CDH1
disease_id: OMIM:119580
disease_name: BLEPHAROCHEILODONTIC SYNDROME 1
gene_symbol: SHPK
disease_id: ORPHA:440713
disease_name: Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
gene_symbol: ZDHHC9
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: UPF3B
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: ATP6V1B2
disease_id: ORPHA:79499
disease_name: Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hearing loss-onychodystrophy syndrome
DDOD syndrome
gene_symbol: ATP6V1B2
disease_id: OMIM:124480
disease_name: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
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: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: FUT8
disease_id: OMIM:618005
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: KCNH1
disease_id: OMIM:135500
disease_name: ZIMMERMANN-LABAND SYNDROME 1
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: ERF
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: NPHP3
disease_id: OMIM:267010
disease_name: MECKEL SYNDROME, TYPE 7
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: FRMPD4
disease_id: OMIM:300983
disease_name: MENTAL RETARDATION, X-LINKED 104
gene_symbol: ATN1
disease_id: OMIM:618494
disease_name: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
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: THOC2
disease_id: ORPHA:457240
disease_name: X-linked intellectual disability-short stature-overweight syndrome
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
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: NEU1
disease_id: ORPHA:93400
disease_name: Congenital sialidosis type 2
gene_symbol: LRP5
disease_id: ORPHA:178377
disease_name: Osteosclerosis-developmental delay-craniosynostosis syndrome
gene_symbol: RNF113A
disease_id: OMIM:300953
disease_name: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: SH3PXD2B
disease_id: ORPHA:137834
disease_name: Frank-Ter Haar syndrome
Ter Haar syndrome
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: MTM1
disease_id: OMIM:310400
disease_name: MYOPATHY, CENTRONUCLEAR, X-LINKED
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
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: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: DVL3
disease_id: OMIM:616894
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
gene_symbol: ANKRD11
disease_id: ORPHA:261250
disease_name: 16q24.3 microdeletion syndrome
Del(16)(q24.3)
Monosomy 16q24.3
gene_symbol: MDH1
disease_id: OMIM:618959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: HIC1
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: WASHC5
disease_id: OMIM:220210
disease_name: RITSCHER-SCHINZEL SYNDROME 1
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: NFIB
disease_id: OMIM:618286
disease_name: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: POLR2A
disease_id: OMIM:618603
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
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: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: C1GALT1C1
disease_id: OMIM:301110
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: EPB41L1
disease_id: OMIM:614257
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
gene_symbol: SIX2
disease_id: ORPHA:488437
disease_name: SIX2-related frontonasal dysplasia
SIX2-related FND
gene_symbol: MYOD1
disease_id: OMIM:618975
disease_name: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
gene_symbol: ANTXR1
disease_id: ORPHA:2067
disease_name: GAPO syndrome
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: SERPINH1
disease_id: OMIM:613848
disease_name: OSTEOGENESIS IMPERFECTA, TYPE X
gene_symbol: ETFDH
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFA
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFB
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: GHR
disease_id: ORPHA:633
disease_name: Laron syndrome
Complete growth hormone insensitivity
GH receptor deficiency
Growth hormone receptor deficiency
Laron-type dwarfism
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Short stature due to growth hormone resistance
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1