- Tall stature (HP:0000098, a Human Phenotype Ontology term): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90308)
- Abnormality of the menstrual cycle (HP:0000140, a Human Phenotype Ontology term): An abnormality of the ovulation cycle. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Hematuria (HP:0000790, a Human Phenotype Ontology term): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Abnormal skull morphology (HP:0000929, a Human Phenotype Ontology term): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Edema (HP:0000969, a Human Phenotype Ontology term): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Hemangioma (HP:0001028, a Human Phenotype Ontology term): 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. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90308)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Ascites (HP:0001541, a Human Phenotype Ontology term): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Abnormal tricuspid valve morphology (HP:0001702, a Human Phenotype Ontology term): Any structural anomaly of the tricuspid valve. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Hydrops fetalis (HP:0001789, a Human Phenotype Ontology term): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Microcytic anemia (HP:0001935, a Human Phenotype Ontology term): A kind of anemia in which the volume of the red blood cells is reduced. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Pulmonary embolism (HP:0002204, a Human Phenotype Ontology term): An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90308)
- Gastrointestinal hemorrhage (HP:0002239, a Human Phenotype Ontology term): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90308)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Prolonged bleeding time (HP:0003010, a Human Phenotype Ontology term): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Abnormality of the pulmonary artery (HP:0004414, a Human Phenotype Ontology term): An abnormality of the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Venous thrombosis (HP:0004936, a Human Phenotype Ontology term): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90308)
- Venous insufficiency (HP:0005293, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90308)
- Internal hemorrhage (HP:0011029, a Human Phenotype Ontology term): The presence of hemorrhage within the body. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Abnormal skeletal morphology (HP:0011842, a Human Phenotype Ontology term): An abnormality of the form, structure, or size of the skeletal system. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90308)
- Lower limb asymmetry (HP:0100559, a Human Phenotype Ontology term): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90308)
- Upper limb asymmetry (HP:0100560, a Human Phenotype Ontology term): Difference in length or size between the right and left arm. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:90308)
- Cellulitis (HP:0100658, a Human Phenotype Ontology term): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:90308)
- Hypercoagulability (HP:0100724, a Human Phenotype Ontology term): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
- Peripheral arteriovenous fistula (HP:0100784, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:90308)
These phenotypes are associated with the disease Capillary-lymphatic-venous malformation with segmental distribution (ORPHA:90308, an Orphanet rare-disease identifier).