- Capillary malformation (HP:0025104): A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:137667)
- Vascular skin abnormality (HP:0011276). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:137667)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- High-output congestive heart failure (HP:0001722): A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Cerebral arteriovenous malformation (HP:0002408): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Cerebral ischemia (HP:0002637): Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Arteriovenous fistula (HP:0004947): An abnormal connection between an artery and vein. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Abnormal appendicular muscle morphology (HP:0009127): A structural anomaly of the appendicular musculature, comprising muscles of the upper limb and pectoral girdle as well as muscles of the lower limb and pelvic girdle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Macule (HP:0012733): A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Vein of Galen aneurysmal malformation (HP:0030713): Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Arteriovenous malformation (HP:0100026): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Abnormality of the lymphatic system (HP:0100763): An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Peripheral arteriovenous fistula (HP:0100784). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:137667)
- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Facial capillary hemangioma (HP:0000996): Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- 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. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Congestive heart failure (HP:0001635): 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: Very rare (HP:0040284). (ORPHA:137667)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Chylothorax (HP:0010310): Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
- Hypopigmented macule (HP:0020073): A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:137667)
These phenotypes are associated with the disease Capillary malformation-arteriovenous malformation (ORPHA:137667).