neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
NEDHIB
exact
POLR2A-Related Disorders
exact
POLR2A-associated neurodevelopmental disability
exact
POLR2A-related disorder
exact
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
exact
SPBC28F2.12