Metadata | |
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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 |