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Significant global hypotonia, poor Moro reflex, poor suck reflex, weak cry Feeding difficulties that often require special feeding techniques Breathing difficulties including obstructive sleep apnea, central sleep apnea, and hypoventilation Characteristic facial features: almond-shaped eyes, narrow forehead, small down-turned mouth with thin upper lip Hypogonadism: small genitalia in males and females, undescended testes in males Hypopigmentation: fair coloring compared to family members Hip dysplasia, scoliosis Excessive daytime sleepiness Eye abnormalities including strabismus (usually estropia) Clinical Symptoms in Young Children without intervention: Global developmental delays Cognitive impairment, learning disorders Eye abnormalities including strabismus (estropia), amblyopia, myopia Excessive daytime sleepiness, narcolepsy, cataplexy Weight gain without an increase in calories (2 - 4.5 years) Hyperphagia: insatiable drive to eat, lack of normal satiety

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Rocca AS & Brubaker PL (2001)