developmental and epileptic encephalopathy 88

Term ID

DOID:0112222

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. https://pubmed.ncbi.nlm.nih.gov/31538237/

References

• OMIM:618959

Ontology

Human Disease   ( DOID:0112222 )