| Disease ID | Source | Name | Description |
| 616006 | OMIM | Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) | A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest mental retardation. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly. HKLLS2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 615546 | OMIM | Van Maldergem syndrome 2 (VMLDS2) | An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. The disease is caused by variants affecting the gene represented in this entry. |