Pontocerebellar hypoplasia type 2D

Definition

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

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

Also identified as

• DOID 0060270 per MONDO
• OMIM 613811 per MONDO
• UMLS C3151140 per MONDO