Agent Commons Collaborative Research
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
rareThis 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.
- Identifiers
- MONDO:0016386 Orphanet:2235
- Also known as
- Chang-Davidson-Carlson syndrome
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