FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pontocerebellar hypoplasia type 1A ID (Ontology) DOID:0060265 (Human Disease)
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.
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 Genes
 pontocerebellar hypoplasia type 1A       2
 for disease ribbon | pontocerebellar hypoplasia type 1A       2
 model of | pontocerebellar hypoplasia type 1A       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________
pontocerebellar hypoplasia             |
 |__pontocerebellar hypoplasia type 1__|
                                       pontocerebellar hypoplasia type 1A  2 rec.
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Is a autosomal recessive disease
pontocerebellar hypoplasia type 1
Part of
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MIM:607596
ORDO:2254