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Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

WWOX
(UniProt - OMIM)
 HADHA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
WWOX
(0.63)
HADHA


Citations in the biomedical literature:


Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
WWOX
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA



Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Synonym(s):
- Autosomal recessive spinocerebellar ataxia-12
- SCAR12
Synonym(s):
- LCHAD deficiency
- LCHADD
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.