developmental and epileptic encephalopathy 48

Term ID

DOID:0080448

Synonyms

• DEE48
• early infantile epileptic encephalopathy 48

Definition

A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. https://www.ncbi.nlm.nih.gov/pubmed/27889060

References

• OMIM:617276

Ontology

Human Disease   ( DOID:0080448 )