Pontocerebellar hypoplasia, type 2F

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.

Also known as non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15, PCH2F, pontocerebellar hypoplasia, type 2F, pontocerebellar hypoplasia, type 2F; PCH2F, TSEN15 non-syndromic pontocerebellar hypoplasia — per MONDO

Also identified as

• DOID 0112329 per MONDO
• OMIM 617026 per MONDO
• UMLS C4310757 per MONDO