pontocerebellar hypoplasia type 1A

Term ID

DOID:0060265

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://pubmed.ncbi.nlm.nih.gov/12548734/

References

• MIM:607596
• ORDO:2254

Ontology

Human Disease   ( DOID:0060265 )