eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | charge syndrome |
| Comorbidity | C0456909|blindness |
| Sentences | 1 |
| PubMedID- 20507341 | In humans, heterozygous mutations in the adenosine triphosphate-dependent chromatin remodeling gene chd7 cause charge syndrome, a common cause of deaf-blindness, balance disorders, congenital heart malformations, and olfactory dysfunction with an estimated incidence of approximately 1 in 10,000 newborns. |
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