Visualize Submit Comment

Metadata
ID	DOID:0080464
Name	developmental and epileptic encephalopathy 53
Definition	A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/27435091
Xrefs	OMIM:617389
Synonyms	DEE53 [EXACT] early infantile epileptic encephalopathy 53 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease