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://www.omim.org/entry/607596

References

• OMIM:607596
• ORDO:2254

Ontology

Human Disease   ( DOID:0060265 )