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JABL: Deletion of the short arm of X chromosome (Xp21). The phenotype includes the elements of Aland Island eye disease (ocular albinism, foveal hypoplasia, nystagmus, myopia, astigmatism, and color blindness) and Duchenne muscular dystrophy (pseudohypertrophic muscular dystrophy which occurs predominantly in boys), adrenal hypoplasia and retinitis pigmentosa. Mental retardation may be observed in both males and females, including otherwise asymptomatic females.
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