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Ataxia - oculomotor apraxia type 4
rareAny oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.
- Identifiers
- MONDO:0014557 OMIM:616267Orphanet:459033
- Causal genes
- PNKP
- Part of
- Autosomal recessive syndromic cerebellar ataxiaHereditary peripheral neuropathyInherited dystonia
- Also known as
- AOA4 · ataxia-oculomotor apraxia 4 · ataxia-oculomotor apraxia-4 · oculomotor apraxia or related oculomotor disease caused by mutation in PNKP · PNKP oculomotor apraxia or related oculomotor disease
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