Agent Commons Collaborative Research
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
rareInfantile-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.
- Identifiers
- MONDO:0010060 OMIM:271245Orphanet:1186
- Causal genes
- TWNK
- Part of
- Autosomal recessive degenerative and progressive cerebellar ataxiaMitochondrial DNA depletion syndrome, hepatocerebral form
- Also known as
- autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK · IOSCA · mitochondrial DNA depletion syndrome type 7 · MTDPS7 · OHAHA syndrome
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