- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Low anterior hairline (HP:0000294): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Sloping forehead (HP:0000340): Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Hearing abnormality (HP:0000364): An abnormality of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Prominent nose (HP:0000448): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Abnormal eyelid morphology (HP:0000492): An abnormality of the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Freckling (HP:0001480): The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Deep philtrum (HP:0002002): Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Abnormality of neuronal migration (HP:0002269): An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Acute leukemia (HP:0002488): A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:647)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Rhabdomyosarcoma (HP:0002859). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Abnormality of chromosome stability (HP:0003220): A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- 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:647)
- Cachexia (HP:0004326): Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Recurrent sinopulmonary infections (HP:0005425): An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Glioma (HP:0009733): The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Abnormal hair quantity (HP:0011362): An abnormal amount of hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- T-cell lymphoma (HP:0012190): A type of lymphoma that originates in T-cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- B-cell lymphoma (HP:0012191): A type of lymphoma that originates in B-cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Anorectal anomaly (HP:0012732): An abnormality of the anus or rectum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:647)
- Non-midline cleft of the upper lip (HP:0100335): Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:647)
- Pollakisuria (HP:0100515): Increased frequency of urination. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:647)
These phenotypes are associated with the disease Nijmegen breakage syndrome (ORPHA:647).