Phenotype: Abnormal size of the palpebral fissures (HP:0200007)
Associated genes and diseases:
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: MECP2
disease_id: ORPHA:1762
disease_name: Proximal Xq28 duplication syndrome
MECP2 duplication syndrome
X-linked intellectual disability syndrome, Lubs type
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
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: OMIM:193500
disease_name: WAARDENBURG SYNDROME, TYPE 1
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:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
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: MAPK1
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: UBE3B
disease_id: OMIM:244450
disease_name: KAUFMAN OCULOCEREBROFACIAL SYNDROME
gene_symbol: UBE3B
disease_id: ORPHA:2707
disease_name: Oculocerebrofacial syndrome, Kaufman type
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: SMARCA2
disease_id: OMIM:619293
disease_name: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
gene_symbol: SMARCA2
disease_id: ORPHA:3051
disease_name: Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
gene_symbol: COLEC10
disease_id: OMIM:248340
disease_name: 3MC SYNDROME 3
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale 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: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: TBX1
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL 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: 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: BRPF1
disease_id: OMIM:617333
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
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: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: GJA1
disease_id: OMIM:164200
disease_name: OCULODENTODIGITAL DYSPLASIA
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: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
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: 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: SEPTIN9
disease_id: OMIM:162100
disease_name: AMYOTROPHY, HEREDITARY NEURALGIC
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: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ANK1
disease_id: ORPHA:251066
disease_name: 8p11.2 deletion syndrome
Del(8)(p11.2)
Monosomy 8p11.2
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: 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: 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: FOXP1
disease_id: ORPHA:391372
disease_name: FOXP1 Syndrome
FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
gene_symbol: UGDH
disease_id: OMIM:618792
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
gene_symbol: KRAS
disease_id: ORPHA:3339
disease_name: Oculoectodermal syndrome
Aplasia cutis congenita-epibulbar dermoids syndrome
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: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
gene_symbol: FOXL2
disease_id: OMIM:110100
disease_name: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
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: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
gene_symbol: MED12
disease_id: ORPHA:293707
disease_name: Blepharophimosis-intellectual disability syndrome, MKB type
BMRS, MKB type
BMRS, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
X-linked Ohdo syndrome
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: SCARF2
disease_id: ORPHA:2460
disease_name: Van den Ende-Gupta syndrome
Marden-Walker-like syndrome
VDEGS
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: EP300
disease_id: OMIM:618333
disease_name: MENKE-HENNEKAM SYNDROME 2
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: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: GPKOW
disease_id: ORPHA:2570
disease_name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Morse-Rawnsley-Sargent syndrome
gene_symbol: GATAD2B
disease_id: OMIM:615074
disease_name: GAND SYNDROME
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
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: 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: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: RERE
disease_id: ORPHA:494344
disease_name: RERE-related neurodevelopmental 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: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: ERCC1
disease_id: OMIM:610758
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 4
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
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: SMOC1
disease_id: ORPHA:1106
disease_name: Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: KAT6B
disease_id: OMIM:603736
disease_name: OHDO SYNDROME, SBBYS VARIANT
gene_symbol: KAT6B
disease_id: ORPHA:3047
disease_name: Blepharophimosis-intellectual disability syndrome, SBBYS type
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
SBBYS variant of Ohdo syndrome
SBBYSS
Say-Barber-Biesecker-Young-Simpson syndrome
gene_symbol: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: MYCN
disease_id: OMIM:164280
disease_name: FEINGOLD SYNDROME 1
gene_symbol: RECQL4
disease_id: OMIM:266280
disease_name: RAPADILINO SYNDROME
gene_symbol: FOXG1
disease_id: ORPHA:261144
disease_name: FOXG1 syndrome due to 14q12 microdeletion
Del(14)(q12)
Monosomy 14q12
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: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: CEP57
disease_id: OMIM:614114
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
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: CEP152
disease_id: OMIM:613823
disease_name: SECKEL SYNDROME 5
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: FANCD2
disease_id: OMIM:227646
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: NFIB
disease_id: OMIM:618286
disease_name: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: HHAT
disease_id: ORPHA:1422
disease_name: Chondrodysplasia-difference of sex development syndrome
Chondrodysplasia-disorder of sex development syndrome
Chondrodysplasia-pseudohermaphroditism syndrome
Nivelon-Nivelon-Mabille syndrome
gene_symbol: SLX4
disease_id: OMIM:613951
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP P
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
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: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: BRCA1
disease_id: OMIM:617883
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP S
gene_symbol: DDR2
disease_id: OMIM:618175
disease_name: WARBURG-CINOTTI SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: ACTB
disease_id: OMIM:243310
disease_name: BARAITSER-WINTER SYNDROME 1
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: BUB1
disease_id: OMIM:620183
disease_name: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE
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: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: CCNK
disease_id: OMIM:618147
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
gene_symbol: ACTG1
disease_id: OMIM:614583
disease_name: BARAITSER-WINTER SYNDROME 2
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
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: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
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: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
gene_symbol: RNU4ATAC
disease_id: ORPHA:353298
disease_name: Roifman syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
gene_symbol: RNU4ATAC
disease_id: OMIM:616651
disease_name: ROIFMAN SYNDROME
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: SPOP
disease_id: OMIM:618829
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 2
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: DPH5
disease_id: OMIM:620070
disease_name: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
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: WARS1
disease_id: OMIM:620317
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: OMIM:300867
disease_name: KABUKI SYNDROME 2
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: DNM1
disease_id: OMIM:620352
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B
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: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: PIK3R2
disease_id: OMIM:603387
disease_name: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
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: PGAP2
disease_id: OMIM:614207
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: LMNB1
disease_id: OMIM:619179
disease_name: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT
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: LMBRD2
disease_id: OMIM:619694
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: AP3B2
disease_id: OMIM:617276
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: WAC
disease_id: ORPHA:466950
disease_name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Desanto-Shinawi syndrome due to WAC point mutation
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
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: PURA
disease_id: ORPHA:438216
disease_name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
gene_symbol: PURA
disease_id: OMIM:616158
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
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: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: PCLO
disease_id: OMIM:608027
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 3
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
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: 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: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
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: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: ALDH1A3
disease_id: OMIM:615113
disease_name: MICROPHTHALMIA, ISOLATED 8
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
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: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: PRKAR1B
disease_id: OMIM:619680
disease_name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
gene_symbol: ZNF148
disease_id: OMIM:617260
disease_name: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
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: 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: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
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: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
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: 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: 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: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: BCL11B
disease_id: OMIM:618092
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: AUTS2
disease_id: ORPHA:352490
disease_name: Autism spectrum disorder due to AUTS2 deficiency
ASD due to AUTS2 deficiency
AUTS2 syndrome
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: TMEM107
disease_id: OMIM:617563
disease_name: OROFACIODIGITAL SYNDROME XVI
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: DONSON
disease_id: OMIM:251230
disease_name: MICROCEPHALY-MICROMELIA SYNDROME
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: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
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: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
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: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
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: BPTF
disease_id: OMIM:617755
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
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: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
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: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: THOC6
disease_id: OMIM:613680
disease_name: BEAULIEU-BOYCOTT-INNES SYNDROME
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
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: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
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: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
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: ADAMTSL2
disease_id: OMIM:231050
disease_name: GELEOPHYSIC DYSPLASIA 1
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
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: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: TRIP12
disease_id: OMIM:617752
disease_name: CLARK-BARAITSER SYNDROME
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
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: MED13
disease_id: OMIM:618009
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
gene_symbol: PIK3CA
disease_id: OMIM:606773
disease_name: HEMIFACIAL MYOHYPERPLASIA
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: KPTN
disease_id: ORPHA:397612
disease_name: Macrocephaly-developmental delay syndrome
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: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: DOCK6
disease_id: OMIM:614219
disease_name: ADAMS-OLIVER SYNDROME 2
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: RAC1
disease_id: ORPHA:500159
disease_name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom