ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

COMMON GENES: 1

1 associated gene
No signs/symptoms info

Infantile onset spinocerebellar ataxia

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

Citations in the biomedical literature:

Infantile onset spinocerebellar ataxia		Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
	Synonym(s): - IOSCA - Ohaha syndrome - Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis		Synonym(s): - mtDNA depletion syndrome, hepatocerebrorenal form

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease - Rare renal 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535523		External references: No OMIM references No MeSH references

Infantile onset spinocerebellar ataxia
	Very frequent - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Functional anomalies of the nervous system - Hearing loss / hypoacusia / deafness - Movement disorder - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Optic nerve anomaly / optic atrophy / anomaly of the papilla
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
(no data available)