developmental and epileptic encephalopathy 53

Term ID

DOID:0080464

Synonyms

• DEE53
• early infantile 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

References

• OMIM:617389

Ontology

Human Disease   ( DOID:0080464 )