developmental and epileptic encephalopathy 107

A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous muta

A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11.

Signs and symptoms

• Progressive microcephaly
• Axial hypotonia
• Microcephaly
• Seizure
• Profound intellectual disability
• Global developmental delay
• Hypotonia
• Appendicular hypotonia
• Tonic seizure
• Motor stereotypy

Also known as: DEE107; early infantile epileptic encephalopathy 107