Conditions / Genetic
microcephaly, seizures, and developmental delay
info · Genetic
A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
Signs and symptoms
- Microcephaly
- Seizure
- Cerebellar atrophy
- Global developmental delay
- Ataxia
- Ventriculomegaly
- Hyperactivity
- Progressive microcephaly
- Skeletal muscle atrophy
- Hypoplasia of the corpus callosum
Also known as: developmental and epileptic encephalopathy 10; early infantile epileptic encephalopathy 10