- Ankle swelling (HP:0001785, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:568051)
- Predominantly lower limb lymphedema (HP:0003550, a Human Phenotype Ontology term): Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:568051)
- Hypoplasia of lymphatic vessels (HP:0003759, a Human Phenotype Ontology term): Congenital underdevelopment of lymph vessels. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:568051)
- Pedal edema (HP:0010741, a Human Phenotype Ontology term): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:568051)
- Abnormal lymphatic vessel morphology (HP:0100766, a Human Phenotype Ontology term): A structural anomaly of the vessel that contains or conveys lymph fluid. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:568051)
- Facial edema (HP:0000282, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:568051)
- Recurrent skin infections (HP:0001581, a Human Phenotype Ontology term): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:568051)
- Varicose veins (HP:0002619, a Human Phenotype Ontology term): Enlarged and tortuous veins. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:568051)
- Venous insufficiency (HP:0005293, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:568051)
- Edema of the dorsum of hands (HP:0007514, a Human Phenotype Ontology term): An abnormal accumulation of fluid beneath the skin on the back of the hands. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:568051)
- Cellulitis (HP:0100658, a Human Phenotype Ontology term): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:568051)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:568051)
- Genital edema (HP:0031188, a Human Phenotype Ontology term): A buildup of fluid that causes swelling in the soft tissues of the genital area. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:568051)
These phenotypes are associated with the disease GJC2-related late-onset primary lymphedema (ORPHA:568051, an Orphanet rare-disease identifier).