Visualize Submit Comment

Metadata
ID	DOID:0112217
Name	developmental and epileptic encephalopathy 81
Definition	A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. https://pubmed.ncbi.nlm.nih.gov/30237576/, https://pubmed.ncbi.nlm.nih.gov/31688942/
Xrefs	OMIM:618663
Synonyms	DEE81 [EXACT] early infantile epileptic encephalopathy 81 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease