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PedAM

Pediatric Disease Annotations & Medicines




Disease albinism
Phenotype C0020619|hypogonadism
Sentences 1
PubMedID- 20578256 The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism with anosmia, ocular albinism, short stature, and mental retardation.

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