Developmental and epileptic encephalopathy, 31B

Definition

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

Also known as DEE31B, developmental and epileptic encephalopathy 31B, autosomal recessive — per MONDO

Also identified as

• DOID 0070376 per MONDO
• OMIM 620352 per MONDO
• UMLS C5830459 per MONDO