Phenotype: Exodeviation (HP:0020049)
Associated genes and diseases:
gene_symbol: SLC6A8
disease_id: OMIM:300352
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
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: ADARB1
disease_id: OMIM:618862
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES
gene_symbol: SIAH1
disease_id: OMIM:619314
disease_name: BURATTI-HAREL SYNDROME
gene_symbol: KDM6B
disease_id: OMIM:618505
disease_name: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES
gene_symbol: TYR
disease_id: OMIM:203100
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE IA
gene_symbol: ADGRG1
disease_id: OMIM:615752
disease_name: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE
gene_symbol: ADGRG1
disease_id: OMIM:606854
disease_name: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: KIF21A
disease_id: OMIM:135700
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: OMIM:602078
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: OMIM:600638
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: DPAGT1
disease_id: OMIM:608093
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: UFSP2
disease_id: OMIM:620028
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106
gene_symbol: KDM1A
disease_id: OMIM:616728
disease_name: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
gene_symbol: KDM1A
disease_id: ORPHA:477993
disease_name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
gene_symbol: CACNA1F
disease_id: OMIM:300071
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
gene_symbol: TMEM67
disease_id: OMIM:602152
disease_name: RHYNS SYNDROME
gene_symbol: ARPC4
disease_id: OMIM:620141
disease_name: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES
gene_symbol: PRPS1
disease_id: ORPHA:423479
disease_name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
gene_symbol: LRAT
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: SPATA7
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: RPE65
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: LCA5
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: TAF2
disease_id: ORPHA:397951
disease_name: Microcephaly-thin corpus callosum-intellectual disability syndrome
gene_symbol: MRPS34
disease_id: OMIM:617664
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: CDC42
disease_id: ORPHA:487796
disease_name: Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: SOX5
disease_id: ORPHA:313892
disease_name: Developmental and speech delay due to SOX5 deficiency
gene_symbol: RERE
disease_id: ORPHA:494344
disease_name: RERE-related neurodevelopmental syndrome
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: WARS2
disease_id: OMIM:617710
disease_name: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
gene_symbol: WARS2
disease_id: ORPHA:572798
disease_name: WARS2-related combined oxidative phosphorylation defect
Mitochondrial tryptophanyl-tRNA synthetase deficiency
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: SLC25A46
disease_id: OMIM:616505
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY
gene_symbol: ACADSB
disease_id: OMIM:610006
disease_name: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
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: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: CRB1
disease_id: OMIM:600105
disease_name: RETINITIS PIGMENTOSA 12
gene_symbol: PTRH2
disease_id: ORPHA:456312
disease_name: Infantile multisystem neurologic-endocrine-pancreatic disease
IMNEPD
gene_symbol: PTRH2
disease_id: OMIM:616263
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: P4HTM
disease_id: OMIM:618493
disease_name: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: DNMBP
disease_id: OMIM:618415
disease_name: CATARACT 48
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
gene_symbol: SALL2
disease_id: OMIM:216820
disease_name: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SCO2
disease_id: ORPHA:521411
disease_name: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive axonal CMT due to copper metabolism defect
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: NR2F1
disease_id: ORPHA:401777
disease_name: Optic atrophy-intellectual disability syndrome
BBSOAS
Bosch-Boonstra-Schaaf optic atrophy syndrome
gene_symbol: FGFR3
disease_id: OMIM:616482
disease_name: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: THOC2
disease_id: OMIM:300957
disease_name: MENTAL RETARDATION, X-LINKED 12
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: RP1L1
disease_id: OMIM:618826
disease_name: RETINITIS PIGMENTOSA 88
gene_symbol: AIMP1
disease_id: OMIM:260600
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 3
gene_symbol: SLC2A1
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SCN2A
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: MT-TL2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: CACNA1A
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: RHOBTB2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SLC1A3
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: ATP1A2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: SNRPN
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: DYRK1A
disease_id: ORPHA:464311
disease_name: Intellectual disability syndrome due to a DYRK1A point mutation
DYRK1A-related intellectual disability syndrome due to a point mutation
gene_symbol: PGM2L1
disease_id: OMIM:620191
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: SLC17A5
disease_id: OMIM:604369
disease_name: SALLA DISEASE
gene_symbol: MADD
disease_id: OMIM:619005
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: MYF5
disease_id: OMIM:618155
disease_name: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: WDR11
disease_id: OMIM:620237
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: PYCR2
disease_id: OMIM:616420
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 10
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: WDR45
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: LRMDA
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: MC1R
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: OCA2
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: HADHA
disease_id: ORPHA:5
disease_name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LCHAD deficiency
LCHADD
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
gene_symbol: ADD3
disease_id: OMIM:617008
disease_name: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
gene_symbol: U2AF2
disease_id: OMIM:620535
disease_name: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES
gene_symbol: SLC32A1
disease_id: OMIM:620774
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: MTRFR
disease_id: ORPHA:254930
disease_name: Combined oxidative phosphorylation defect type 7
COXPD7
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
gene_symbol: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: MRPS2
disease_id: OMIM:617950
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: AFG2A
disease_id: ORPHA:457351
disease_name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
gene_symbol: IFT27
disease_id: OMIM:615996
disease_name: BARDET-BIEDL SYNDROME 19
gene_symbol: ATP1A3
disease_id: OMIM:619606
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99
gene_symbol: GMPPA
disease_id: OMIM:615510
disease_name: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
gene_symbol: ATP13A2
disease_id: OMIM:617225
disease_name: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: GRIA1
disease_id: OMIM:619931
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: 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: HACE1
disease_id: ORPHA:464282
disease_name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
gene_symbol: TRAPPC11
disease_id: ORPHA:369840
disease_name: TRAPPC11-related limb-girdle muscular dystrophy R18
Autosomal recessive limb-girdle muscular dystrophy type 2S
LGMD type 2S
LGMD2S
Limb-girdle muscular dystrophy type 2S
TRAPPC11-related LGMD R18
gene_symbol: RNH1
disease_id: OMIM:620461
disease_name: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome