developmental and epileptic encephalopathy 105

A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the

A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.

Signs and symptoms

• Motor delay
• Absent speech
• Pituitary hypothyroidism
• Synophrys
• Bilateral tonic-clonic seizure
• Anterior pituitary hypoplasia
• Hypotonia
• EEG with generalized slow activity
• Thin corpus callosum
• EEG with focal sharp slow waves

Also known as: DEE105; early infantile epileptic encephalopathy 105