Phenotype: Opisthotonus (HP:0002179)
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: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
gene_symbol: ASPA
disease_id: OMIM:271900
disease_name: CANAVAN DISEASE
gene_symbol: KCNJ6
disease_id: ORPHA:435628
disease_name: Keppen-Lubinsky syndrome
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
gene_symbol: KCNJ6
disease_id: OMIM:614098
disease_name: KEPPEN-LUBINSKY SYNDROME
gene_symbol: CYB5R3
disease_id: OMIM:250800
disease_name: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
gene_symbol: GBA1
disease_id: ORPHA:85212
disease_name: Fetal Gaucher disease
Perinatal lethal Gaucher disease
gene_symbol: GBA1
disease_id: OMIM:608013
disease_name: GAUCHER DISEASE, PERINATAL LETHAL
gene_symbol: GBA1
disease_id: ORPHA:77260
disease_name: Gaucher disease type 2
Acute neuronopathic Gaucher disease
Infantile cerebral Gaucher disease
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: KCNC2
disease_id: OMIM:619913
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
gene_symbol: SLC19A3
disease_id: OMIM:607483
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)
gene_symbol: CLPB
disease_id: ORPHA:445038
disease_name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: HPRT1
disease_id: OMIM:300322
disease_name: LESCH-NYHAN SYNDROME
gene_symbol: FUS
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPG11
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SIGMAR1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPTLC1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: ALS2
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: VPS50
disease_id: OMIM:619685
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
gene_symbol: ALG11
disease_id: ORPHA:280071
disease_name: ALG11-CDG
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
gene_symbol: ALG11
disease_id: OMIM:613661
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: UGDH
disease_id: OMIM:618792
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
gene_symbol: DTYMK
disease_id: OMIM:619847
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: OPA1
disease_id: OMIM:616896
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: TUFM
disease_id: OMIM:610678
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
gene_symbol: DNM1
disease_id: OMIM:620352
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B
gene_symbol: ASPM
disease_id: OMIM:608716
disease_name: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: TNR
disease_id: OMIM:619653
disease_name: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
gene_symbol: POU3F3
disease_id: OMIM:618604
disease_name: SNIJDERS BLOK-FISHER SYNDROME
gene_symbol: GRIN1
disease_id: OMIM:619814
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101
gene_symbol: VPS53
disease_id: OMIM:615851
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
gene_symbol: TSEN2
disease_id: OMIM:612389
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
gene_symbol: TSEN54
disease_id: OMIM:277470
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A
gene_symbol: TOE1
disease_id: OMIM:614969
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 7
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: MCCC2
disease_id: OMIM:210210
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
gene_symbol: PAFAH1B1
disease_id: ORPHA:95232
disease_name: Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
gene_symbol: PTS
disease_id: ORPHA:13
disease_name: 6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: PANK2
disease_id: ORPHA:216866
disease_name: Classic pantothenate kinase-associated neurodegeneration
NBIA1, classic form
Neurodegeneration with brain iron accumulation type 1, classic form
PKAN, classic form
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: CARS2
disease_id: OMIM:616672
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
gene_symbol: PLCB4
disease_id: OMIM:620458
disease_name: AURICULOCONDYLAR SYNDROME 2B
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: MCCC1
disease_id: OMIM:210200
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
gene_symbol: BCKDHB
disease_id: OMIM:620698
disease_name: MAPLE SYRUP URINE DISEASE, TYPE IB
gene_symbol: DBT
disease_id: OMIM:620699
disease_name: MAPLE SYRUP URINE DISEASE, TYPE II
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: CRLF1
disease_id: OMIM:272430
disease_name: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: SV2A
disease_id: OMIM:620772
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113