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PedAM

Pediatric Disease Annotations & Medicines




Disease epilepsy
Phenotype C0020619|hypogonadism
Sentences 1
PubMedID- 26283149 In this study, we performed exome sequencing in a family presenting hypergonadotropic hypogonadism with neurological presentations of mental retardation, epilepsy, ataxia, and leukodystrophy.

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