Metadata | |
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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 | |
Synonyms |
DEE53 [EXACT] early infantile epileptic encephalopathy 53 [EXACT] |
Parent Relationships |