Clinical features of KCNB2-associated neurodevelopmental syndrome
Patients with KCNB2-related neurodevelopmental syndrome are often children that show delays in achieving developmental milestones at the expected age. This includes but is not limited to delays in:
• Motor development such baby rolling, propped and independent sitting, standing and walking.
• Intellectual and cognitive development such as IQ, language and speech.
Some patients also present epilepsy, mild autistic traits and ADHD.
Most patients, in addition, exhibit facial and limb abnormalities. These include abnormal nails, open mouth, drooling, broad forehead, thin upper lip, full lower lip, curved fingers, puffy feet, eye misalignment and other eye disorders, synophrys or an unibrow, beaked nose, etc.
One patient also presented from diabetes, cataract, vision impairment, and low bone density.
KCNB2