Developmental and epileptic encephalopathy, 31A

Definition

Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene.

Also known as DEE31A, developmental and epileptic encephalopathy 31A, autosomal dominant, DNM1 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080437 per MONDO
• OMIM 616346 per MONDO
• UMLS C4225357 per MONDO