- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:167)
- Abnormal leukocyte morphology (HP:0001881): An abnormality of leukocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:167)
- Vacuolated lymphocytes (HP:0001922): The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:167)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:167)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:167)
- Abnormality of multiple cell lineages in the bone marrow (HP:0012145). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:167)
- Hemophagocytosis (HP:0012156): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:167)
- Increased CD25+ mast cell proportion (HP:0031408): An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:167)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- 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: Frequent (HP:0040282). (ORPHA:167)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Rotary nystagmus (HP:0001583): A form of nystagmus in which the eyeball makes rotary motions around the axis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- 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: Frequent (HP:0040282). (ORPHA:167)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Large clumps of pigment irregularly distributed along hair shaft (HP:0004527). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Recurrent bacterial skin infections (HP:0005406): Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Hypopigmentation of hair (HP:0005599). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Recurrent staphylococcal infections (HP:0007499): Increased susceptibility to staphylococcal infections as manifested by recurrent episodes of staphylococcal infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Abnormal platelet function (HP:0011869): Any anomaly in the function of thrombocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Abnormal neutrophil physiology (HP:0011990): Any functional abnormality of neutrophils. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Abnormal natural killer cell morphology (HP:0012176): An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Recurrent streptococcal infections (HP:0020096): Increased susceptibility to streptococcal infections as manifested by recurrent episodes of streptococcal infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:167)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- 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:167)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- 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: Occasional (HP:0040283). (ORPHA:167)
- 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: Occasional (HP:0040283). (ORPHA:167)
- 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: Occasional (HP:0040283). (ORPHA:167)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Parkinsonism (HP:0001300): Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- 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: Occasional (HP:0040283). (ORPHA:167)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Hypoproteinemia (HP:0003075): A decreased concentration of protein in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Atrophy of alveolar ridges (HP:0006308). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Atrophy of the spinal cord (HP:0006827). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Brain atrophy (HP:0012444): Partial or complete wasting (loss) of brain tissue that was once present. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:167)
- Spotty hyperpigmentation (HP:0005585). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:167)
These phenotypes are associated with the disease Chédiak-Higashi syndrome (ORPHA:167).