- Decreased specific antibody response to vaccination (HP:0032140): A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Clinodactyly of the 2nd finger (HP:0040022). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Clinodactyly of the 3rd finger (HP:0040024). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Clinodactyly of the 4th finger (HP:0040025). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Nasogastric tube feeding (HP:0040288): The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Palpebral edema (HP:0100540): Edema in the region of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Recurrent ear infections (HP:0410018): Increased susceptibility to ear infections as manifested by recurrent episodes of ear infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221139)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221139)
- Flat forehead (HP:0004425): A forehead with abnormal flatness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221139)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Abnormality of the chin (HP:0000306): An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Hypertrichosis (HP:0000998): Hypertrichosis is increased hair growth that is abnormal in quantity or location. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Intellectual disability (HP:0001249): 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: Frequent (HP:0040282). (ORPHA:221139)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- 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:221139)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Myopathic facies (HP:0002058): A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Intention tremor (HP:0002080): A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Recurrent aspiration pneumonia (HP:0002100): Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Generalized myoclonic seizure (HP:0002123): A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Positive Romberg sign (HP:0002403): The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Chronic decreased circulating IgA concentration (HP:0003460): Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Psoriasiform dermatitis (HP:0003765): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Combined immunodeficiency (HP:0005387): A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Lacrimal duct stenosis (HP:0007678): Narrowing of a tear duct (lacrimal duct). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Recurrent oral thrush (HP:0009098): Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Short distal phalanx of the thumb (HP:0009650): Hypoplastic (short) distal phalanx of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Broad middle phalanx of finger (HP:0009844): Increased width of the middle phalanx of finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Underdeveloped supraorbital ridges (HP:0009891): Flatness of the supraorbital portion of the frontal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Thin lower lip vermilion (HP:0010282): Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Dermatochalasis (HP:0010750): Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Decreased total B cell count (HP:0010976): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Abnormal T cell subset number (HP:0025540): Abnormal increase or decrease of absolute number (either count per volume or percentage of total lymphocytes) of any T cell subpopulation, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Aberrant right subclavian artery (HP:0031632): Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Decreased mitogen-induced T-cell proliferation (HP:0031381): Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382): Abnormal decrease of T cell proliferation in response to anti-CD3/28 stimulation. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation and strength of stimulation may vary between laboratories. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
- Decreased circulating total IgG concentration (HP:0032132): A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221139)
These phenotypes are associated with the disease Combined immunodeficiency with facio-oculo-skeletal anomalies (ORPHA:221139).