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Metadata
ID DOID:0080066
Name autosomal recessive spinocerebellar ataxia 20
Definition An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.
https://www.ncbi.nlm.nih.gov/pubmed/25439728
Xrefs

OMIM:616354

Synonyms

SCAR20 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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