Autosomal recessive spinocerebellar ataxia 16

Definition

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.

Also known as autosomal recessive cerebellar ataxia caused by mutation in STUB1, autosomal recessive spinocerebellar ataxia 16, autosomal recessive spinocerebellar ataxia type 16, SCAR16, spinocerebellar ataxia autosomal recessive type 16, spinocerebellar ataxia, autosomal recessive type 16, STUB1 autosomal recessive cerebellar ataxia — per MONDO

Also identified as

• DOID 0080029 per MONDO
• OMIM 615768 per MONDO
• Orphanet 412057 per MONDO
• UMLS C5190574 per MONDO