eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | robinow syndrome |
| Comorbidity | C0029464|osteosclerosis |
| Sentences | 1 |
| PubMedID- 25577943 | A variant of robinow syndrome, associated with osteosclerosis and caused by dvl1 pathogenic variants, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above. |
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