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Metadata
ID	DOID:0061176
Name	developmental and epileptic encephalopathy 118
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/
Xrefs	MIM:621250
Parent Relationships	is_a autosomal dominant disease is_a developmental and epileptic encephalopathy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance