Pontocerebellar hypoplasia type 9

MONDO:0014351

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.

Also known as: AMPD2 non-syndromic pontocerebellar hypoplasia, PCH9, non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2, pontocerebellar hypoplasia, type 9

1 clinical trial for this condition and its sub-types, 0 tagged with Pontocerebellar hypoplasia type 9 itself.

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