developmental and epileptic encephalopathy 49

Term ID

DOID:0080441

Synonyms

• DEE49
• early infantile epileptic encephalopathy 49

Definition

A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/27866705

References

• OMIM:617281

Ontology

Human Disease   ( DOID:0080441 )