Phenotypes associated with the disease lymphatic malformation 5 (OMIM:153200):
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:153200)
- Predominantly lower limb lymphedema (HP:0003550): Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. Evidence: TAS. (OMIM:153200)
- Facial edema (HP:0000282). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:153200)
- Yellow nails (HP:0011367): Yellowish discoloration of the nails. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:153200)
- Hypoplasia of lymphatic vessels (HP:0003759): Congenital underdevelopment of lymph vessels. Evidence: TAS. (OMIM:153200)
- 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: TAS. (OMIM:153200)