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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 MDH1 on chromosome 2p15.
https://pubmed.ncbi.nlm.nih.gov/31538237/
Xrefs

OMIM:618959

Synonyms

DEE88 [EXACT]

early infantile epileptic encephalopathy 88 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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