Pontocerebellar hypoplasia, type 1C

MONDO:0014485

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, PCH1C, hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

11 clinical trials for this condition and its sub-types, 0 tagged with Pontocerebellar hypoplasia, type 1C itself.

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↑ Pontocerebellar hypoplasia type 1 (0)

Including sub-types (11) Tagged with Pontocerebellar hypoplasia, type 1C (0)

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