Term Name: | developmental and epileptic encephalopathy 88 |
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Synonyms: | DEE88, early infantile 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. |
Ontology: | Human Disease [DOID:0112222] ( DOID:0112222 ) |