- Abnormal T cell physiology (HP:0011840): A functional anomaly of T cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1830)
- Focal segmental glomerulosclerosis (HP:0000097): Segmental accumulation of scar tissue in individual (but not all) glomeruli. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1830)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1830)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1830)
- Abnormal femoral head morphology (HP:0003368): An abnormality of the femoral head. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1830)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1830)
- Abnormal lymphocyte physiology (HP:0031409): Any anomaly of lymphocyte function. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1830)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Multiple lentigines (HP:0001003): Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- 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: Frequent (HP:0040282). (ORPHA:1830)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- 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: Frequent (HP:0040282). (ORPHA:1830)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- 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: Frequent (HP:0040282). (ORPHA:1830)
- Atherosclerosis (HP:0002621): A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- 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: Frequent (HP:0040282). (ORPHA:1830)
- Spondyloepiphyseal dysplasia (HP:0002655): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Abnormality of thyroid physiology (HP:0002926): An abnormal functionality of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Shallow acetabular fossae (HP:0003182). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Severe T-cell immunodeficiency (HP:0005352): A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Wide capital femoral epiphyses (HP:0008784): Abnormally wide morphology of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Nephrotic range proteinuria (HP:0012593): Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Abnormal naive CD4+ T cell proportion (HP:0410373): Abnormal increase or decrease of the naive CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Decreased naive CD8+ T cell proportion (HP:0410377): Abnormal decrease of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1830)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- 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: Occasional (HP:0040283). (ORPHA:1830)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- 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: Occasional (HP:0040283). (ORPHA:1830)
- Status epilepticus (HP:0002133): Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Ischemic stroke (HP:0002140): Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Hemiplegia (HP:0002301): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Microscopic hematuria (HP:0002907): Microscopic hematuria detected by dipstick or microscopic examination of the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Arteriosclerosis of small cerebral arteries (HP:0004931): Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Abnormal primary molar morphology (HP:0006344): An abnormality of morphology of primary molar. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Focal hemiclonic seizure (HP:0006813): A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Minimal change glomerulonephritis (HP:0012579): The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1830)
- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1830)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1830)
- Abnormal intestine morphology (HP:0002242): An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1830)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1830)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1830)
- Lymphoproliferative disorder (HP:0005523). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1830)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1830)
- Non-Hodgkin lymphoma (HP:0012539): A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1830)
These phenotypes are associated with the disease Schimke immuno-osseous dysplasia (ORPHA:1830).