eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | simpson dysmorphia syndrome |
| Comorbidity | C0010308|congenital hypothyroidism |
| Sentences | 1 |
| PubMedID- 21434539 | We report here a novel nonsense mutation of the gpc3 gene in a five-year-old moroccan patient of consanguineous parents who had sgbs phenotype associated with congenital hypothyroidism. |
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