neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
PUM1-associated developmental disability-ataxia-seizure syndrome
exact
Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene.
MONDO:0015653
monogenic epilepsy
is_a
MONDO:0019792
autosomal dominant cerebellar ataxia type I
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
SPAC1687.22c