Phenotype: Thick eyebrow (HP:0000574)
Associated genes and diseases:
gene_symbol: SMC1A
disease_id: OMIM:300590
disease_name: CORNELIA DE LANGE SYNDROME 2
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
gene_symbol: RPS23
disease_id: OMIM:617412
disease_name: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
gene_symbol: RAD21
disease_id: OMIM:614701
disease_name: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: CUL7
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CUL7
disease_id: OMIM:273750
disease_name: THREE M SYNDROME 1
gene_symbol: OBSL1
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CCDC8
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: TFAP2B
disease_id: OMIM:169100
disease_name: CHAR SYNDROME
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
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: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: ATP6V1B2
disease_id: OMIM:616455
disease_name: ZIMMERMANN-LABAND SYNDROME 2
gene_symbol: ATP6V1B2
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: SPECC1L
disease_id: ORPHA:1519
disease_name: SPECC1L-related hypertelorism syndrome
Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome
gene_symbol: KCNJ8
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: ABCC9
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: KNL1
disease_id: OMIM:604321
disease_name: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: SLC25A24
disease_id: ORPHA:2963
disease_name: Progeroid syndrome, Petty type
Fontaine progeroid syndrome
Petty syndrome
Petty-Laxova-Wiedemann syndrome
gene_symbol: SMARCA2
disease_id: OMIM:619293
disease_name: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: ARID1B
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: CHMP1A
disease_id: OMIM:614961
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 8
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: IARS2
disease_id: ORPHA:436174
disease_name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
CAGSSS
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: CDH11
disease_id: OMIM:619736
disease_name: TEEBI HYPERTELORISM SYNDROME 2
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: PDCD6IP
disease_id: OMIM:620047
disease_name: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: ARID1A
disease_id: OMIM:614607
disease_name: COFFIN-SIRIS SYNDROME 2
gene_symbol: ARID1A
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCB1
disease_id: OMIM:614608
disease_name: COFFIN-SIRIS SYNDROME 3
gene_symbol: SMARCB1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
gene_symbol: SMARCA4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
gene_symbol: TAF1
disease_id: ORPHA:480907
disease_name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
gene_symbol: MN1
disease_id: OMIM:618774
disease_name: CEBALID SYNDROME
gene_symbol: KMT2A
disease_id: ORPHA:319182
disease_name: Wiedemann-Steiner syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: UBR7
disease_id: OMIM:619189
disease_name: LI-CAMPEAU SYNDROME
gene_symbol: ABCA5
disease_id: ORPHA:2026
disease_name: Gingival fibromatosis-hypertrichosis syndrome
CGHT
Congenital generalized hypertrichosis terminalis
Hirsutism-congenital gingival hyperplasia syndrome
Hypertrichosis with or without gingival hyperplasia
gene_symbol: TBCK
disease_id: ORPHA:488632
disease_name: TBCK-related intellectual disability syndrome
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
gene_symbol: KCNN3
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNH1
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNH1
disease_id: OMIM:135500
disease_name: ZIMMERMANN-LABAND SYNDROME 1
gene_symbol: KCNH1
disease_id: ORPHA:420561
disease_name: Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: SLC6A17
disease_id: ORPHA:457212
disease_name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
gene_symbol: MYCN
disease_id: OMIM:620748
disease_name: MEGALENCEPHALY-POLYDACTYLY SYNDROME
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: AFF4
disease_id: OMIM:616368
disease_name: CHOPS SYNDROME
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: DEPDC5
disease_id: OMIM:620504
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: TMCO1
disease_id: ORPHA:1394
disease_name: Cerebrofaciothoracic dysplasia
Pascual-Castroviejo syndrome type 1
gene_symbol: SUMF1
disease_id: ORPHA:585
disease_name: Multiple sulfatase deficiency
Austin disease
MSD
Mucosulfatidosis
gene_symbol: PSMC1
disease_id: OMIM:620071
disease_name: BIRK-AHARONI SYNDROME
gene_symbol: BCAS3
disease_id: OMIM:619641
disease_name: HENGEL-MAROOFIAN-SCHOLS SYNDROME
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: RALGAPA1
disease_id: OMIM:618797
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
gene_symbol: LAS1L
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: LAS1L
disease_id: OMIM:309585
disease_name: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: HDAC8
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMARCE1
disease_id: OMIM:616938
disease_name: COFFIN-SIRIS SYNDROME 5
gene_symbol: SMARCE1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
gene_symbol: FRMD4A
disease_id: OMIM:616819
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
gene_symbol: FRMD4A
disease_id: ORPHA:466688
disease_name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
gene_symbol: MEF2C
disease_id: ORPHA:228384
disease_name: 5q14.3 microdeletion syndrome
Del(5)(q14.3)
Monosomy 5q14.3
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO 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: ORPHA:894
disease_name: Waardenburg syndrome type 1
WS1
Waardenburg syndrome type I
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: TBL1XR1
disease_id: OMIM:616944
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
gene_symbol: WAC
disease_id: OMIM:616708
disease_name: DESANTO-SHINAWI SYNDROME
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: FBXO31
disease_id: OMIM:615979
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
gene_symbol: DOCK7
disease_id: OMIM:615859
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23
gene_symbol: DOCK7
disease_id: ORPHA:411986
disease_name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG 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: CDK13
disease_id: OMIM:617360
disease_name: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: TAF6
disease_id: OMIM:617126
disease_name: ALAZAMI-YUAN SYNDROME
gene_symbol: U2AF2
disease_id: OMIM:620535
disease_name: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: CTCF
disease_id: ORPHA:363611
disease_name: CTCF-related neurodevelopmental disorder
gene_symbol: JARID2
disease_id: OMIM:620098
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
gene_symbol: ERLIN2
disease_id: ORPHA:280384
disease_name: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
IDMDC
gene_symbol: ERLIN2
disease_id: ORPHA:209951
disease_name: Autosomal spastic paraplegia type 18
SPG18
gene_symbol: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: MAP3K7
disease_id: OMIM:617137
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 2
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: HECW2
disease_id: OMIM:617268
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
gene_symbol: SIM1
disease_id: ORPHA:171829
disease_name: 6q16 microdeletion syndrome
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
gene_symbol: DDX59
disease_id: OMIM:174300
disease_name: OROFACIODIGITAL SYNDROME V
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: RHOBTB2
disease_id: OMIM:618004
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
gene_symbol: SMARCC2
disease_id: OMIM:618362
disease_name: COFFIN-SIRIS SYNDROME 8
gene_symbol: SMARCC2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: DPF2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: DPF2
disease_id: OMIM:618027
disease_name: COFFIN-SIRIS SYNDROME 7
gene_symbol: SMARCD1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX11
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: DENND5A
disease_id: OMIM:617281
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49
gene_symbol: HMGA2
disease_id: ORPHA:94063
disease_name: 12q14 microdeletion syndrome
Del(12)(q14)
Deletion 12q14
Monosomy 12q14
Osteopoikilosis-short stature-intellectual disability syndrome
gene_symbol: LEMD3
disease_id: ORPHA:94063
disease_name: 12q14 microdeletion syndrome
Del(12)(q14)
Deletion 12q14
Monosomy 12q14
Osteopoikilosis-short stature-intellectual disability syndrome
gene_symbol: CHD1
disease_id: ORPHA:529965
disease_name: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Pilarowski-Bjornsson syndrome
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: FREM1
disease_id: OMIM:608980
disease_name: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: KCNK4
disease_id: OMIM:618381
disease_name: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: CPLX1
disease_id: OMIM:617976
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: WNT4
disease_id: ORPHA:247768
disease_name: Müllerian aplasia and hyperandrogenism
Müllerian duct failure and hyperandrogenism
WNT4 deficiency
gene_symbol: CDON
disease_id: OMIM:614226
disease_name: HOLOPROSENCEPHALY 11
gene_symbol: IDUA
disease_id: ORPHA:93473
disease_name: Hurler syndrome
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
gene_symbol: EXT1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: TRPS1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: SETD1B
disease_id: OMIM:619000
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY
gene_symbol: GPRASP2
disease_id: OMIM:301018
disease_name: DEAFNESS, X-LINKED 7
gene_symbol: ZSWIM6
disease_id: OMIM:617865
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL 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: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: PHIP
disease_id: OMIM:617991
disease_name: CHUNG-JANSEN SYNDROME
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: CNOT2
disease_id: OMIM:618608
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: ACER3
disease_id: OMIM:617762
disease_name: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: TUBGCP2
disease_id: OMIM:618737
disease_name: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
gene_symbol: KMT2C
disease_id: OMIM:617768
disease_name: KLEEFSTRA SYNDROME 2
gene_symbol: IGF1R
disease_id: OMIM:270450
disease_name: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO