KBHS is characterized by global developmental delay, intellectual disability, hypotonia, and motor issues such as coordination problems, feeding difficulties, and gait disturbance. Dysmorphisms and behavioral and/or psychiatric conditions, including autism spectrum disorder, and to a lesser extent, seizures, connective tissue disease signs, sleep disturbance, vision problems, and other organ anomalies could also be found. Reported MRI abnormalities include delayed myelination, white matter loss, small corpus callosum, enlarged extracerebral spaces, dilated ventricles, hydrocephaly, periventricular nodular heterotopia, cavum septum pellucidum, polymicrogyria, and schizencephaly. Cardiac abnormalities have also been reported.
MSL2