Pontocerebellar hypoplasia type 1B

Definition

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.

Also known as EXOSC3 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3, pontocerebellar hypoplasia type 1B — per MONDO

Also identified as

• DOID 0060266 per MONDO
• OMIM 614678 per MONDO
• UMLS C3553449 per MONDO