Infantile onset spinocerebellar ataxia
http://www.orpha.net/ORDO/Orphanet_1186
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
Synonyms: IOSCA, Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome, Ohaha syndrome
Term info
database cross reference
- ICD-10:G11.1 (Attributed)
- OMIM:271245 (E (exact mapping (the terms and the concepts are equivalent)))
- UMLS:C1849096 (E (exact mapping (the terms and the concepts are equivalent)))
- MeSH:C535523 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:G11.1 (NTBT (narrower term maps to a broader term))
definition citation
orphanet
hasDbXref
MeSH:C535523, UMLS:C1849096, ICD-10:G11.1, OMIM:271245
notation
ORPHA:1186
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some <1 / 1 000 000
- present_in some Worldwide and has_cases/families_average_value value 29.0
- part_of some Autosomal recessive degenerative and progressive cerebellar ataxia
- has_inheritance some autosomal recessive
- has_age_of_onset some infancy
- part_of some Mitochondrial DNA depletion syndrome, hepatocerebral form