developmental and epileptic encephalopathy 51

Term ID

DOID:0080433

Synonyms

• DEE51
• early infantile epileptic encephalopathy 51

Definition

A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. https://www.ncbi.nlm.nih.gov/pubmed/27989324

References

• MIM:617339

Ontology

Human Disease   ( DOID:0080433 )