OBO ID: DOID:0060265
Term Name: pontocerebellar hypoplasia type 1A Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   (DOID:0060265)
OTHER pontocerebellar hypoplasia type 1A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VRK1 Pontocerebellar hypoplasia type 1A 607596
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None