PedAM
Pediatric Disease Annotations & Medicines
| Disease | cone-rod dystrophy |
| Phenotype | C0028754|obesity |
| Sentences | 1 |
| 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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