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autosomal recessive spinocerebellar ataxia 30
Summary
- Synonym
-
- SCAR30
- Definition
- An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0070411
- Mondo Disease Ontology
- OMIM
