developmental and epileptic encephalopathy 85

Term ID

DOID:0070380

Synonyms

• DEE85
• early infantile epileptic encephalopathy 85

Definition

A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. (2)

References

• OMIM:301044

Ontology

Human Disease   ( DOID:0070380 )