developmental and epileptic encephalopathy 66

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_i

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.

Signs and symptoms

• Seizure
• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Thin upper lip vermilion
• Wide nasal bridge
• Downturned corners of mouth
• Wide mouth
• Delayed ability to walk
• Hypotonia

Also known as: DEE66; early infantile epileptic encephalopathy 66