Metadata | |
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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 | |
Synonyms |
SCAR31 [EXACT] |
Parent Relationships |