Term Name:	developmental and epileptic encephalopathy 118
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.
Ontology:	Human Disease [DOID:0061176]   ( DOID:0061176 )