developmental and epileptic encephalopathy 86

Term ID

DOID:0112220

Synonyms

• DEE86
• early infantile epileptic encephalopathy 86

Definition

A developmental and epileptic encephalopathy 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

• OMIM:618910

Ontology

Human Disease   ( DOID:0112220 )