Spinocerebellar ataxia, autosomal recessive 12

Preferred Label : Spinocerebellar ataxia, autosomal recessive 12;

Symbol : SCAR12;

CISMeF acronym : SCAR12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia with mental retardation and epilepsy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WW domain-containing oxidoreductase gene (WWOX, 605131.0002);

Prefixed ID : #614322;

Details

Origin ID

614322;

UMLS CUI

C3280452;

Currated CISMeF NLP mapping
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) [SNOMED CT concept]
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency [ORDO Disease]
- autosomal recessive spinocerebellar ataxia 12 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 12 [DO Concept]
Genes related to phenotype
- Ww domain-containing oxidoreductase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability [HPO term]
- Limb ataxia [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Retinal degeneration [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency [ORDO Disease]
See also inter- (CISMeF)
- WWOX wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 12 [DO Concept]

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