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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

MIM:617389

Synonyms

DEE53 [EXACT]

early infantile epileptic encephalopathy 53 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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