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Metadata
ID DOID:0060265
Name pontocerebellar hypoplasia type 1A
Definition A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.
https://www.omim.org/entry/607596
Xrefs

OMIM:607596

ORDO:2254

Subsets

DO_rare_slim

Parent Relationships

is_a pontocerebellar hypoplasia type 1

is_a autosomal recessive disease

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