developmental and epileptic encephalopathy 86

Term ID

DOID:0112220

Synonyms

• DEE86
• early infantile epileptic encephalopathy 86

Definition

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. https://pubmed.ncbi.nlm.nih.gov/32427860/

References

• MIM:618910

Ontology

Human Disease   ( DOID:0112220 )