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developmental and epileptic encephalopathy 81
Summary
- Synonym
-
- DEE81
- early infantile 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.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112217
- Mondo Disease Ontology
- OMIM
