Autosomal recessive spinocerebellar ataxia 17

Definition

Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.

Also known as autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1, autosomal recessive spinocerebellar ataxia type 17, CWF19L1 autosomal recessive congenital cerebellar ataxia, SCAR17, spinocerebellar ataxia autosomal recessive type 17, spinocerebellar ataxia, autosomal recessive type 17 — per MONDO

Also identified as

• DOID 0080064 per MONDO
• OMIM 616127 per MONDO
• Orphanet 453521 per MONDO
• UMLS C4015301 per MONDO