developmental and epileptic encephalopathy 86

A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic faci

A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31.

Signs and symptoms

• Oligohydramnios
• Absent speech
• Dystonia
• Myoclonic seizure
• Generalized hypotonia
• Severe global developmental delay
• Generalized amyotrophy
• Gastrostomy tube feeding in infancy
• Microcephaly
• Small for gestational age

Also known as: DEE86; early infantile epileptic encephalopathy 86