Term Name: | autosomal recessive spinocerebellar ataxia 31 |
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Synonyms: | SCAR31 |
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. |
Ontology: | Human Disease [DOID:0070412] ( DOID:0070412 ) |