Phenotype: Large face (HP:0100729)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: MUSK
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRNE
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: GFPT1
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: SLC6A8
disease_id: OMIM:300352
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
gene_symbol: MAN1B1
disease_id: OMIM:614202
disease_name: RAFIQ SYNDROME
gene_symbol: 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: CLCN4
disease_id: OMIM:300114
disease_name: RAYNAUD-CLAES SYNDROME
gene_symbol: CLCN4
disease_id: ORPHA:485350
disease_name: CLCN4-related X-linked intellectual disability syndrome
Raynaud-Claes syndrome
gene_symbol: EYA1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: EYA1
disease_id: OMIM:166780
disease_name: OTOFACIOCERVICAL SYNDROME 1
gene_symbol: SIX1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: RAPSN
disease_id: OMIM:616326
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
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: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: ALKBH8
disease_id: OMIM:618504
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: TNNT1
disease_id: OMIM:620389
disease_name: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: POU4F1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: ERCC8
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC8
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC4
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC6
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC6
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: PQBP1
disease_id: ORPHA:93950
disease_name: X-linked intellectual disability, Sutherland-Haan type
gene_symbol: PQBP1
disease_id: ORPHA:93945
disease_name: X-linked intellectual disability, Porteous type
gene_symbol: PQBP1
disease_id: ORPHA:93947
disease_name: X-linked intellectual disability, Golabi-Ito-Hall type
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: OMIM:617169
disease_name: SOTOS SYNDROME 3
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
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: NFIX
disease_id: ORPHA:447980
disease_name: 19p13.3 microduplication syndrome
Dup(19)(p13.3)
gene_symbol: NFIX
disease_id: OMIM:614753
disease_name: SOTOS SYNDROME 2
gene_symbol: OPHN1
disease_id: OMIM:300486
disease_name: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
gene_symbol: SLC9A6
disease_id: OMIM:300243
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
gene_symbol: SLC9A6
disease_id: ORPHA:85278
disease_name: Christianson syndrome
X-linked Angelman-like syndrome
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
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: ZNF711
disease_id: OMIM:300803
disease_name: MENTAL RETARDATION, X-LINKED 97
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: CHAMP1
disease_id: OMIM:616579
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
gene_symbol: PIGK
disease_id: OMIM:618879
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
gene_symbol: RPGRIP1L
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: RPGRIP1L
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: NPHP1
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: TMEM237
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: TMEM237
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM237
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: AHI1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: AHI1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: INPP5E
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: INPP5E
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: INPP5E
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: CEP120
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP120
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MKS1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: MKS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP41
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP41
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: SETD2
disease_id: OMIM:620157
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: SETD2
disease_id: OMIM:616831
disease_name: LUSCAN-LUMISH SYNDROME
gene_symbol: ACTA1
disease_id: OMIM:620278
disease_name: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT
gene_symbol: ACTA1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ACTA1
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: CHRNG
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: TSPAN7
disease_id: OMIM:300210
disease_name: MENTAL RETARDATION, X-LINKED 58
gene_symbol: RIC1
disease_id: OMIM:618761
disease_name: CATIFA SYNDROME
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
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: MSTO1
disease_id: OMIM:617675
disease_name: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
gene_symbol: MSTO1
disease_id: ORPHA:502423
disease_name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
gene_symbol: MYPN
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: MYPN
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: TPM2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM2
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM3
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: TPM3
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM3
disease_id: OMIM:255310
disease_name: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM3
disease_id: OMIM:609284
disease_name: NEMALINE MYOPATHY 1
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: BIN1
disease_id: OMIM:255200
disease_name: MYOPATHY, CENTRONUCLEAR, 2
gene_symbol: BIN1
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
gene_symbol: TAF1
disease_id: ORPHA:480907
disease_name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: SELENON
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MYL2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ITGA7
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: HACD1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MAP3K20
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: PURA
disease_id: ORPHA:438216
disease_name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
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: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: SIN3A
disease_id: ORPHA:94065
disease_name: 15q24 microdeletion syndrome
Del(15)(q24)
Monosomy 15q24
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: MTM1
disease_id: ORPHA:596
disease_name: X-linked centronuclear myopathy
X-linked myotubular myopathy
XLCNM
XLMTM
gene_symbol: MTM1
disease_id: OMIM:310400
disease_name: MYOPATHY, CENTRONUCLEAR, X-LINKED
gene_symbol: KIAA0753
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KIAA0753
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: PDE6D
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PDE6D
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TCTN1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CSPP1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: OFD1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: OFD1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: SUFU
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CPLANE1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CPLANE1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TMEM67
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM67
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: ARL13B
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP104
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: HYLS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KATNIP
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM218
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KIAA0586
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN3
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TCTN2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PIBF1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: ARMC9
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TOGARAM1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CBY1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: ARL3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: IFT74
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: SGCG
disease_id: ORPHA:353
disease_name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Autosomal recessive limb-girdle muscular dystrophy type 2C
Gamma-sarcoglycan-related LGMD R5
Gamma-sarcoglycanopathy
LGMD due to gamma-sarcoglycan deficiency
LGMD type 2C
LGMD2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2C
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: UPF3B
disease_id: OMIM:300676
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: AP1S2
disease_id: ORPHA:85335
disease_name: Fried syndrome
gene_symbol: AP1S2
disease_id: ORPHA:85329
disease_name: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: OTUD6B
disease_id: OMIM:617452
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
gene_symbol: OTUD6B
disease_id: ORPHA:505237
disease_name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
gene_symbol: FMR1
disease_id: ORPHA:908
disease_name: Fragile X syndrome
FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
gene_symbol: SLC4A10
disease_id: OMIM:620746
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
gene_symbol: CPSF3
disease_id: OMIM:619876
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
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: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: SYNE1
disease_id: ORPHA:319332
disease_name: Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive myogenic AMC
SYNE1-related AMC
SYNE1-related arthrogryposis multiplex congenita
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: FGF3
disease_id: OMIM:610706
disease_name: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
gene_symbol: FGF3
disease_id: ORPHA:2791
disease_name: Otodental syndrome
Globodontia
Otodental dysplasia
gene_symbol: FGF3
disease_id: ORPHA:90024
disease_name: Deafness with labyrinthine aplasia, microtia, and microdontia
Hearing loss with labyrinthine aplasia, microtia, and microdontia
LAMM syndrome
Microdontia-type I microtia-deafness syndrome
Microdontia-type I microtia-hearing loss syndrome
gene_symbol: 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: 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: BCAS3
disease_id: OMIM:619641
disease_name: HENGEL-MAROOFIAN-SCHOLS SYNDROME
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: MGP
disease_id: ORPHA:85202
disease_name: Keutel syndrome
Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
gene_symbol: MGP
disease_id: OMIM:245150
disease_name: KEUTEL SYNDROME
gene_symbol: TCF20
disease_id: OMIM:618430
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: TET3
disease_id: OMIM:618798
disease_name: BECK-FAHRNER SYNDROME
gene_symbol: CCDC174
disease_id: OMIM:616816
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: SNAP29
disease_id: OMIM:609528
disease_name: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
gene_symbol: SNAP29
disease_id: ORPHA:66631
disease_name: CEDNIK syndrome
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:618343
disease_name: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SMAD2
disease_id: OMIM:619657
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
gene_symbol: MED12
disease_id: OMIM:309520
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: BRWD3
disease_id: OMIM:300659
disease_name: MENTAL RETARDATION, X-LINKED 93
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: KBTBD13
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: VMA22
disease_id: OMIM:616828
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: ALG12
disease_id: ORPHA:79324
disease_name: ALG12-CDG
CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
gene_symbol: SLC16A2
disease_id: ORPHA:59
disease_name: Allan-Herndon-Dudley syndrome
AHDS
MCT8 deficiency
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability-hypotonia syndrome
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
gene_symbol: CUX1
disease_id: OMIM:618330
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: MEIS2
disease_id: ORPHA:261190
disease_name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
15q14 microdeletion syndrome
Del(15)(q14)
Monosomy 15q14
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: SPEG
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: RYR1
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: TTN
disease_id: ORPHA:169186
disease_name: Autosomal recessive centronuclear myopathy
AR-CNM
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: CAPRIN1
disease_id: OMIM:620782
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
gene_symbol: NSDHL
disease_id: ORPHA:251383
disease_name: CK syndrome
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
gene_symbol: NSDHL
disease_id: OMIM:300831
disease_name: CK SYNDROME
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: SLC9A7
disease_id: OMIM:301024
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108
gene_symbol: NHS
disease_id: OMIM:302350
disease_name: NANCE-HORAN SYNDROME
gene_symbol: NHS
disease_id: ORPHA:627
disease_name: Nance-Horan syndrome
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: SYNGAP1
disease_id: ORPHA:544254
disease_name: SYNGAP1-related developmental and epileptic encephalopathy
SYNGAP1-related DEE
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: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TMEM231
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM231
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TMEM138
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: ZNF423
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: CEP290
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM216
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM216
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: MRAS
disease_id: OMIM:618499
disease_name: NOONAN SYNDROME 11
gene_symbol: NKAP
disease_id: OMIM:301039
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: RECQL4
disease_id: OMIM:266280
disease_name: RAPADILINO SYNDROME
gene_symbol: RAB39B
disease_id: OMIM:300271
disease_name: MENTAL RETARDATION, X-LINKED 72
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: KMT2B
disease_id: ORPHA:589618
disease_name: Dystonia 28
DYT28
KMT2B-related dystonia
gene_symbol: SRCAP
disease_id: OMIM:619595
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
gene_symbol: DYRK1A
disease_id: OMIM:614104
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: TPRKB
disease_id: OMIM:617731
disease_name: GALLOWAY-MOWAT SYNDROME 5
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: STEEP1
disease_id: OMIM:301013
disease_name: MENTAL RETARDATION, X-LINKED 107
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: KCNK9
disease_id: OMIM:612292
disease_name: BIRK-BAREL SYNDROME
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: PAK1
disease_id: OMIM:618158
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
gene_symbol: ANKRD11
disease_id: ORPHA:261250
disease_name: 16q24.3 microdeletion syndrome
Del(16)(q24.3)
Monosomy 16q24.3
gene_symbol: TTC5
disease_id: OMIM:619244
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
gene_symbol: TRAIP
disease_id: OMIM:616777
disease_name: SECKEL SYNDROME 9
gene_symbol: CEP57
disease_id: OMIM:614114
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
gene_symbol: STRADA
disease_id: OMIM:611087
disease_name: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY
gene_symbol: DDX3X
disease_id: OMIM:300958
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: SCN4A
disease_id: OMIM:620369
disease_name: CONGENITAL MYOPATHY 22B, SEVERE FETAL
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: NFIB
disease_id: OMIM:618286
disease_name: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: PHF8
disease_id: ORPHA:85287
disease_name: X-linked intellectual disability, Siderius type
gene_symbol: PHF8
disease_id: OMIM:300263
disease_name: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
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: MID2
disease_id: OMIM:300928
disease_name: MENTAL RETARDATION, X-LINKED 101
gene_symbol: MYH3
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: TOPORS
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: FAM149B1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: KIF7
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: DOCK3
disease_id: OMIM:618292
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: EIF2S3
disease_id: OMIM:300148
disease_name: MEHMO SYNDROME
gene_symbol: PRKACA
disease_id: OMIM:619142
disease_name: CARDIOACROFACIAL DYSPLASIA 1
gene_symbol: PBX1
disease_id: OMIM:617641
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
gene_symbol: GRIN1
disease_id: OMIM:614254
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
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: CHRNB1
disease_id: OMIM:616313
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: SLC12A6
disease_id: OMIM:218000
disease_name: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: BRAT1
disease_id: OMIM:618056
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: NFIA
disease_id: OMIM:613735
disease_name: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: DNM1
disease_id: OMIM:620352
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B
gene_symbol: SOST
disease_id: OMIM:269500
disease_name: SCLEROSTEOSIS 1
gene_symbol: HRAS
disease_id: ORPHA:3071
disease_name: Costello syndrome
FCS syndrome
Faciocutaneoskeletal syndrome
gene_symbol: RMRP
disease_id: ORPHA:175
disease_name: Cartilage-hair hypoplasia
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
gene_symbol: TP53RK
disease_id: OMIM:617730
disease_name: GALLOWAY-MOWAT SYNDROME 4
gene_symbol: PEX13
disease_id: OMIM:614883
disease_name: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: AGA
disease_id: ORPHA:93
disease_name: Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
gene_symbol: CRLF1
disease_id: OMIM:272430
disease_name: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
gene_symbol: CRLF1
disease_id: ORPHA:1545
disease_name: Crisponi syndrome
gene_symbol: IDUA
disease_id: ORPHA:93473
disease_name: Hurler syndrome
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
gene_symbol: CLCF1
disease_id: ORPHA:1545
disease_name: Crisponi syndrome