Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
Definition
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of developmental delay and intellectual disability, seizures of various types, and tremor and dyskinetic movements, with death in early childhood in some cases.
Also known as UNC13A-related neurodevelopmental disorder with seizures and movement disorder — per MONDO