- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:15689446)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: PCS. Frequency: 13/35. (PMID:15689446)
- 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: 64/71. Onset: Congenital onset (HP:0003577). (PMID:15689446)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:16965327)
- Upslanting toenail (HP:0032344): Upturned concavity of toenails. Evidence: PCS. Frequency: 10/71. (PMID:15689446)
- Urethral stricture (HP:0012227): Narrowing of the urethra associated with inflammation or scar tissue. Evidence: PCS. Frequency: 2/35. (PMID:15689446)
- Papilloma (HP:0012740): A tumor of the skin or mucous membrane with finger-like projections. Evidence: PCS. Frequency: 7/71. (PMID:15689446)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: PCS. Frequency: 14/71. (PMID:15689446)
- Hypoplasia of lymphatic vessels (HP:0003759): Congenital underdevelopment of lymph vessels. Evidence: PCS. Frequency: 4/4. (PMID:15689446)
- Prominent superficial veins (HP:0001015): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: PCS. Frequency: 16/71. (PMID:15689446)
- 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:15689446)
- Hyperkeratosis over edematous areas (HP:0007448). Evidence: TAS. (OMIM:153100)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: TAS. (OMIM:153100)
These phenotypes are associated with the disease lymphatic malformation 1 (OMIM:153100).