Pontocerebellar hypoplasia type 9

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.

Also known as AMPD2 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2, PCH9 — per MONDO

Also identified as

• DOID 0060278 per MONDO
• OMIM 615809 per MONDO
• Orphanet 369920 per MONDO
• UMLS C4014354 per MONDO