Autosomal recessive spinocerebellar ataxia 11

Definition

Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.

Also known as autosomal recessive spinocerebellar ataxia 11, autosomal recessive spinocerebellar ataxia type 11, autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14, SCAR11, spinocerebellar ataxia, autosomal recessive type 11, SYT14 autosomal recessive syndromic cerebellar ataxia — per MONDO

Also identified as

• DOID 0080063 per MONDO
• OMIM 614229 per MONDO
• Orphanet 284271 per MONDO
• UMLS C5190803 per MONDO