autosomal recessive spinocerebellar ataxia 21

Term ID

DOID:0111155

Synonyms

• acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
• autosomal recessive spinocerebellar ataxia 21 with hepatopathy
• SCAR21

Definition

An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/26581903

References

• OMIM:616719
• ORDO:466794

Ontology

Human Disease   ( DOID:0111155 )