| Metadata | |
|---|---|
| ID | DOID:0112222 |
| Name | developmental and epileptic encephalopathy 88 |
| Definition | A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31538237/ |
| Xrefs | |
| Synonyms |
DEE88 [EXACT] early infantile epileptic encephalopathy 88 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |