PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypogonadism |
| Phenotype | C1535927|charge syndrome |
| Sentences | 1 |
| PubMedID- 20884005 | Objective: to test the hypothesis that a smell test could predict the occurrence of hypogonadotropic hypogonadism (hh) in patients with charge syndrome, which is a variable combination of ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital hypoplasia, and ear anomalies or hearing loss caused by mutations in the chd7 (chromodomain helicase dna binding protein 7) gene. |
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