Autosomal recessive spinocerebellar ataxia 20

Definition

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.

Also known as autosomal recessive cerebellar ataxia caused by mutation in SNX14, autosomal recessive spinocerebellar ataxia type 20, intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome, SCAR20, SNX14 autosomal recessive cerebellar ataxia, spinocerebellar ataxia, autosomal recessive type 20 — per MONDO

Also identified as

• DOID 0080066 per MONDO
• OMIM 616354 per MONDO
• Orphanet 397709 per MONDO
• UMLS C5190595 per MONDO