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About: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)

Type: ThingFuchs' dystrophydisease New Facet based on Instances of this Class

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. It has been described in eight individuals of which seven came from Finnmark County, Norway. Inheritance pattern is thought to be autosomal recessive.