eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | nephrocalcinosis |
| Comorbidity | C0020437|hypercalcaemia |
| Sentences | 1 |
| PubMedID- 22412832 | The physical wbs phenotype includes a short stature, craniofacial abnormalities [24] with a characteristic dysmorphic face (elfin-like face), an odd gait, abnormalities affecting different systems such as the cardiovascular system (vascular stenosis), the musculoskeletal or endocrine systems, and frequent infantile hypercalcaemia leading to nephrocalcinosis [25], [26]. |
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