- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79452)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79452)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79452)
- Ankle swelling (HP:0001785). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79452)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79452)
- Abnormal venous morphology (HP:0002624): An anomaly of vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79452)
- Predominantly lower limb lymphedema (HP:0003550): Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79452)
- Pedal edema (HP:0010741): 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). (ORPHA:79452)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79452)
- Toenail dysplasia (HP:0100797): An abnormality of the development of the toenails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79452)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79452)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79452)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79452)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79452)
- Lichenification (HP:0100725): Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79452)
- Angiosarcoma (HP:0200058). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79452)
- Erysipelas (HP:0001055): Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79452)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79452)
These phenotypes are associated with the disease Milroy disease (ORPHA:79452).