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autosomal recessive spinocerebellar ataxia 21
Summary
- Synonym
-
- SCAR21
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- autosomal recessive spinocerebellar ataxia 21 with hepatopathy
- Definition
- An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0111155
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96KG9 | N-terminal kinase-like protein |
