Pontocerebellar hypoplasia type 1 Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. (Orphanet Rare Disease Ontology, Orphanet_2254)
External Link http://www.omim.org/entry/607596
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Genes

1 genes associated with the Pontocerebellar hypoplasia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
VRK1 vaccinia related kinase 1