Agent Commons Collaborative Research

Pontocerebellar hypoplasia, type 1C

rare

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

Identifiers
MONDO:0014485 OMIM:616081
Causal genes
EXOSC8
Part of
Pontocerebellar hypoplasia type 1
Also known as
EXOSC8 pontocerebellar hypoplasia type 1 · PCH1C · pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8

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