- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Calcification of the auricular cartilage (HP:0005103): Ossification affecting the external ear cartilage. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Myocardial calcification (HP:0006690): Calcium deposition in the myocardium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Choroidal neovascularization (HP:0011506): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Encephalomalacia (HP:0040197): Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Gangrene (HP:0100758): A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Arterial calcification (HP:0003207): Pathological deposition of calcium salts in one or more arteries. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:51608)
- Generalized arterial calcification (HP:0004940): Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:51608)
- Calcification of the aorta (HP:0004963): Calcification, that is, pathological deposition of calcium salts in the aorta. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:51608)
- Hepatic calcification (HP:0006559): The presence of abnormal calcium deposition in the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:51608)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Coronary artery calcification (HP:0001717): An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Hypophosphatemic rickets (HP:0004912). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Medial calcification of large arteries (HP:0004966): Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Ectopic calcification (HP:0010766): Deposition of calcium salts in a tissue or location in which calcification does not normally occur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Medullary nephrocalcinosis (HP:0012408): The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Medial calcification of medium-sized arteries (HP:0012457): Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Fetal distress (HP:0025116): An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Left ventricular systolic dysfunction (HP:0025169): Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Periarticular calcification (HP:0025477): Calcified deposits in soft tissue structures outside a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:51608)
- Stapes ankylosis (HP:0000381): Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Abnormal retinal arterial/arteriolar morphology (HP:0000630): Any deviation from the normal structure of the retinal artery or arterioles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Ventricular hypertrophy (HP:0001714): Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Hydrops fetalis (HP:0001789): 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). (ORPHA:51608)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Fused cervical vertebrae (HP:0002949): A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Stippled calcification of the shoulder (HP:0003836). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Stippled calcification of the elbow (HP:0003941). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Abnormal calcification of the carpal bones (HP:0009164). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Cortical nephrocalcinosis (HP:0012409): The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Weak pulse (HP:0032553): A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Recurrent spontaneous abortion (HP:0200067): Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:51608)
- Retinal hemorrhage (HP:0000573): Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Angioid streaks (HP:0001102): Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- 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:51608)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
- Aortic dissection (HP:0002647): Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:51608)
These phenotypes are associated with the disease Generalized arterial calcification of infancy (ORPHA:51608).