neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
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.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
UNC13A-related neurodevelopmental disorder with seizures and movement disorder
exact
SPAC11E3.02c