developmental and epileptic encephalopathy 109

info · Genetic

A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13.

Signs and symptoms

Gait ataxia
Failure to thrive
Hyperreflexia
Axial hypotonia
Focal hemiclonic seizure
Delayed speech and language development
Dyspnea
Severe global developmental delay
Primary microcephaly
Left ventricular hypertrophy

Also known as: DEE109