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autosomal recessive spinocerebellar ataxia 20
Summary
- Synonym
-
- SCAR20
- Definition
- An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0080066
- Mondo Disease Ontology
- OMIM
