developmental and epileptic encephalopathy 73

Term ID

DOID:0112209

Synonyms

• DEE73
• early infantile epileptic encephalopathy 73

Definition

A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. https://pubmed.ncbi.nlm.nih.gov/30595371/

References

• OMIM:618379

Ontology

Human Disease   ( DOID:0112209 )