Spastic ataxia 4

Definition

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

Also known as autosomal recessive spastic ataxia caused by mutation in MTPAP, autosomal recessive spastic ataxia type 4, MTPAP autosomal recessive spastic ataxia, spastic ataxia type 4, SPAX4 — per MONDO

Also identified as

• DOID 0050943 per MONDO
• OMIM 613672 per MONDO
• Orphanet 254343 per MONDO
• UMLS C3150925 per MONDO