developmental and epileptic encephalopathy 111

Term ID

DOID:0051083

Synonyms

Definition

A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12. https://pubmed.ncbi.nlm.nih.gov/36067010/

References

• MIM:620504

Ontology

Human Disease   ( DOID:0051083 )