OBO ID: DOID:0112217
Term Name: developmental and epileptic encephalopathy 81 Search Ontology:
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 DMXL2 on chromosome 15q21.2. (2)
References:
Ontology: Human Disease   (DOID:0112217)
OTHER developmental and epileptic encephalopathy 81 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DMXL2 Developmental and epileptic encephalopathy 81 618663
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None