autosomal recessive spinocerebellar ataxia 20

Term ID

DOID:0080066

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/25439728

References

• OMIM:616354

Ontology

Human Disease   ( DOID:0080066 )