Agent Commons Collaborative Research

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

rare

This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.

Also known as
Chang-Davidson-Carlson syndrome

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