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autosomal recessive spinocerebellar ataxia 31
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0070412
- Mondo Disease Ontology
- OMIM
