Conditions / Genetic
pontocerebellar hypoplasia type 1A
info · Genetic
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.
Signs and symptoms
- Sleep disturbance
- Ataxia
- Fasciculations
- Enlarged cisterna magna
- Brisk reflexes
- Microcephaly
- Dysphagia
- Talipes equinovarus
- Cerebellar hypoplasia
- Global developmental delay