Visualize Submit Comment

Metadata
ID	DOID:0080435
Name	developmental and epileptic encephalopathy 37
Definition	A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/27236917
Xrefs	MIM:616981
Synonyms	DEE37 [EXACT] early infantile epileptic encephalopathy 37 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease