developmental and epileptic encephalopathy 106

Term ID

DOID:0070392

Synonyms

• DEE106
• early infantile epileptic encephalopathy 106

Definition

A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. https://pubmed.ncbi.nlm.nih.gov/33473208/

References

• OMIM:620028

Ontology

Human Disease   ( DOID:0070392 )