Pontocerebellar hypoplasia type 10

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.

Also known as CLP1 non-syndromic pontocerebellar hypoplasia, CLP1-related pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1, PCH10 — per MONDO

Also identified as

• DOID 0060279 per MONDO
• OMIM 615803 per MONDO
• Orphanet 411493 per MONDO
• UMLS C5190575 per MONDO