Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hennekam lymphangiectasia-lymphedema syndrome, 235510, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME (HLLS) |
R-numbers: R331 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510, Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features, Combined immunodeficiencies with associated or syndromic features |
Green in Primary lymphoedemaR-numbers: R136 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hennekam lymphangiectasia-lymphedema syndrome, 235510, Hennekam Lymphangiectasia-Lymphedema Syndrome |
Green in Vascular skin disordersR-numbers: R326 Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hennekam lymphangiectasia-lymphoedema syndrome |