| 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 | |
| Synonyms |
DEE53 [EXACT] early infantile epileptic encephalopathy 53 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |