Pontocerebellar hypoplasia type 2B

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.

Also known as non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2, pontocerebellar hypoplasia type 2B, TSEN2 non-syndromic pontocerebellar hypoplasia — per MONDO

Also identified as

• DOID 0060268 per MONDO
• MESH C567325 per MONDO
• OMIM 612389 per MONDO
• UMLS C2676466 per MONDO