Pontocerebellar hypoplasia type 2E

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.

Also known as non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53, pontocerebellar hypoplasia type 2E, VPS53 non-syndromic pontocerebellar hypoplasia — per MONDO

Also identified as

• DOID 0060271 per MONDO
• OMIM 615851 per MONDO
• UMLS C4014488 per MONDO