| Metadata | |
|---|---|
| ID | DOID:0080448 |
| Name | developmental and 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 |
| Xrefs | |
| Synonyms |
DEE48 [EXACT] early infantile epileptic encephalopathy 48 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |