PedAM
Pediatric Disease Annotations & Medicines
| Disease | lymphedema |
| Phenotype | C0025958|microcephaly |
| Sentences | 3 |
| PubMedID- 24327603 | Recent insight from genetic studies further support the notion that kif11 is required for development of normal retinal and lymphatic vessels, since kif11 mutations cause autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy [33]. |
| PubMedID- 22284827 | We have identified kif11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. |
| PubMedID- 25764055 | Autosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in kif11. |
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