Pontocerebellar hypoplasia, type 1C

Definition

Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.

Also known as EXOSC8 pontocerebellar hypoplasia type 1, pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8, pontocerebellar hypoplasia, type 1C — per MONDO

Also identified as

• DOID 0112334 per MONDO
• OMIM 616081 per MONDO
• UMLS C4015160 per MONDO