Term Name: developmental and epileptic encephalopathy 81
Synonyms: 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.
Ontology: Human Disease [DOID:0112217]   ( DOID:0112217 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy