developmental and epileptic encephalopathy 61

info · Genetic

A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.

Signs and symptoms

Narrow forehead
Cerebral atrophy
Focal clonic seizure
Seizure
Open mouth
Profound intellectual disability
Secondary microcephaly
Generalized hypotonia
Thick vermilion border
Reduced eye contact

Also known as: DEE61; early infantile epileptic encephalopathy 61