developmental and epileptic encephalopathy 31B

info · Genetic

A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.

Signs and symptoms

Poor head control
Narrow forehead
Clonus
Hypsarrhythmia
Seizure
Protruding tongue
Hypotonia
Myoclonic seizure
Thin corpus callosum
Nystagmus

Also known as: DEE31B