Phenotypes associated with the disease lymphatic malformation 9 (OMIM:619319):
- Predominantly lower limb lymphedema (HP:0003550): Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. Evidence: PCS. Frequency: 2/2. (PMID:26855770)
- Tortuous lymphatic vessels (HP:0033986): The presence of an increased number of twists and turns of lymphatic vessels. Evidence: PCS. Frequency: 1/2. (PMID:26855770)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26855770)