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Metadata
ID DOID:0070412
Name autosomal recessive spinocerebellar ataxia 31
Definition An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25.
https://pubmed.ncbi.nlm.nih.gov/34161705/
Xrefs

MIM:619422

Synonyms

SCAR31 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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