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PedAM

Pediatric Disease Annotations & Medicines




Disease cone-rod dystrophy
Phenotype C0028754|obesity
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PubMedID- 22566558 Alström syndrome (alms; omim: 203800) is a rare ciliopathy (∼50 diagnosed cases in the uk) characterised by cone-rod dystrophy leading to blindness, childhood obesity, hearing loss, hyperinsulinaemia, type 2 diabetes and dilated cardiomyopathy, together with pulmonary, renal, urological and hepatic dysfunction and chronic respiratory tract infections (reviewed in marshall et al., 2011a).

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