developmental and epileptic encephalopathy 122

Term ID

DOID:0051091

Synonyms

Definition

A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21. https://pubmed.ncbi.nlm.nih.gov/41570816/

References

• MIM:621608

Ontology

Human Disease   ( DOID:0051091 )