developmental and epileptic encephalopathy 118

Term ID

DOID:0061176

Synonyms

Definition

A developmental and epileptic encephalopathy characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/37421948/

References

• MIM:621250

Ontology

Human Disease   ( DOID:0061176 )