neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
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
PUM1-associated developmental disability-ataxia-seizure syndrome
exact
SPAC1687.22c