Disease association ontology term - MONDO:0014598 - developmental and epileptic encephalopathy, 31A

Term summary

ID

MONDO:0014598

Name

developmental and epileptic encephalopathy, 31A

Ontology or CV name

Disease association

Definition

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

Parents

• is_a Lennox-Gastaut syndrome
• is_a undetermined early-onset epileptic encephalopathy
• is_a neonatal-onset developmental and epileptic encephalopathy
• is_a DNM1-encephalopathy and neurodevelopmental disorder

Annotation