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Autosomal recessive spinocerebellar ataxia 20
rareAny autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.
- Identifiers
- MONDO:0014601 OMIM:616354Orphanet:397709
- Causal genes
- SNX14
- Part of
- Autosomal recessive cerebellar ataxiaCentral nervous system malformationCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- autosomal recessive cerebellar ataxia caused by mutation in SNX14 · autosomal recessive spinocerebellar ataxia type 20 · intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome · SCAR20 · SNX14 autosomal recessive cerebellar ataxia
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