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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2410
This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.
An autosomal recessive mode of transmission appears likely.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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