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
This is just here as a test because I lose it
Term information
database cross reference
- ICD-10:G11.1 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- MeSH:C535523 (E (Exact mapping: the two concepts are equivalent))
- OMIM:271245 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:G11.1 (Attributed (The ICD10 code is attributed by Orphanet))
- UMLS:C1849096 (E (Exact mapping: the two concepts are equivalent))
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some <1 / 1 000 000
- part_of some Autosomal recessive degenerative and progressive cerebellar ataxia
- has_inheritance some autosomal recessive
- has_age_of_onset some infancy
- present_in some Worldwide and has_cases/families_value value 29.0
- part_of some Mitochondrial DNA depletion syndrome, hepatocerebral form