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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia
Comorbidity C0020619|hypogonadism
Sentences 3
PubMedID- 24052715 [3] reviewed the cases of the rare association of ataxia with hypergonadotropic hypogonadism (aah) and documented only 15 cases.
PubMedID- 21827899 Cerebellar ataxia with hypogonadism is another heterogeneous syndrome for which no locus has been mapped yet.
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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