ZFIN Human Disease: developmental and epileptic encephalopathy 81

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 the DMXL2 gene on chromosome 15q21.2. (2)
References:	OMIM:618663
Ontology:	Human Disease ( DOID:0112217 )

Relationships

is a type of:	autosomal recessive disease developmental and epileptic encephalopathy autosomal recessive disease developmental and epileptic encephalopathy Show first 5 Terms

OTHER developmental and epileptic encephalopathy 81 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DMXL2	dmxl2	Developmental and epileptic encephalopathy 81	618663

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None