Английская Википедия:Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

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Шаблон:Infobox medical condition

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries.[1] It has been described in eight individuals of which seven came from Finnmark County, Norway.[2][3][4] Inheritance pattern is thought to be autosomal recessive.[5]

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Шаблон:Reflist

Шаблон:Genetic-disorder-stub