Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.
Comprehensive, easy-to-understand information about this condition
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pontocerebellar hypoplasia type 4
MONDO:0009166
pontocerebellar hypoplasia type 3
MONDO:0011948
pontocerebellar hypoplasia type 5
MONDO:0012438
pontocerebellar hypoplasia type 6
MONDO:0012683
pontocerebellar hypoplasia type 8
MONDO:0013990
pontocerebellar hypoplasia type 7
MONDO:0013993