Ataxia - oculomotor apraxia type 4

Definition

Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.

Also known as AOA4, ataxia - oculomotor apraxia type 4, oculomotor apraxia or related oculomotor disease caused by mutation in PNKP, PNKP oculomotor apraxia or related oculomotor disease — per MONDO

Also identified as

• DOID 0081383 per MONDO
• OMIM 616267 per MONDO
• Orphanet 459033 per MONDO
• UMLS C4225397 per MONDO