Pontocerebellar hypoplasia type 2C

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.

Also known as non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34, TSEN34 non-syndromic pontocerebellar hypoplasia — per MONDO

Also identified as

• DOID 0060269 per MONDO
• MESH C567324 per MONDO
• OMIM 612390 per MONDO
• UMLS C2676465 per MONDO