An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (uniparental disomy) which are imprinted (genetic imprinting) and hence silenced. Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence. (Menkes, Textbook of Child Neurology, 5th ed, p229)
This condition is in the encyclopedia, but no sufficiently relevant PubMed publications are linked to it yet.
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