Spastic ataxia 3

Definition

Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.

Also known as ARSAL, autosomal recessive spastic ataxia caused by mutation in MARS2, autosomal recessive spastic ataxia type 3, MARS2 autosomal recessive spastic ataxia, spastic ataxia type 3, SPAX3 — per MONDO

Also identified as

• DOID 0050942 per MONDO
• MESH C566956 per MONDO
• OMIM 611390 per MONDO
• Orphanet 314603 per MONDO
• UMLS C1969645 per MONDO