developmental and epileptic encephalopathy 84

Term ID

DOID:0112219

Synonyms

• DEE84
• early infantile epileptic encephalopathy 84
• Jamuar syndrome

Definition

A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. https://pubmed.ncbi.nlm.nih.gov/32001716/

References

• OMIM:618792

Ontology

Human Disease   ( DOID:0112219 )