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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 DMXL2 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

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