- Reduced social responsiveness (HP:0012760): A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:97685)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:97685)
- 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: Very frequent (HP:0040281). (ORPHA:97685)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:97685)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Progressive visual loss (HP:0000529): A reduction of previously attained ability to see. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- 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: Frequent (HP:0040282). (ORPHA:97685)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- 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:97685)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Language impairment (HP:0002463): Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Beaking of vertebral bodies T12-L3 (HP:0004562). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Plexiform neurofibroma (HP:0009732): A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Lisch nodules (HP:0009737): The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Abnormal central motor function (HP:0011442): An anomaly of the control or production of movement in the central nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Nevus anemicus (HP:0025105): A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Telangiectasia of the skin (HP:0100585): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Brain imaging abnormality (HP:0410263): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97685)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- 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:97685)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Abnormal choroid morphology (HP:0000610): Any structural abnormality of the choroid (the posterior part of the uvea, the middle tunic of the eye, consisting mainly of blood vessels). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Abnormality of the vertebral column (HP:0000925): Any abnormality of the vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Thickened cortex of long bones (HP:0000935): Abnormal thickening of the cortex of long bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- 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: Occasional (HP:0040283). (ORPHA:97685)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Large hands (HP:0001176). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- 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:97685)
- 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:97685)
- 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: Occasional (HP:0040283). (ORPHA:97685)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- 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: Occasional (HP:0040283). (ORPHA:97685)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Long foot (HP:0001833): Increased back to front length of the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Renal artery stenosis (HP:0001920): The presence of stenosis of the renal artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- 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:97685)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- 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: Occasional (HP:0040283). (ORPHA:97685)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Recurrent subcortical infarcts (HP:0007236). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Focal-onset seizure (HP:0007359): A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Atypical neurofibromatosis (HP:0007524). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Retinal neovascularization (HP:0030666): In ischemic retinal disease, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels. Ischemia invariably leads to the upregulation of Vascular Endothelial Growth Factor (VEGF) production. Most frequently the new vessels grow internal to the plane of the retina. However, intraretinal proliferation of new vessels can also occur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- 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:97685)
- Optic nerve glioma (HP:0009734): A glioma originating in the optic nerve or optic chiasm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Cerebellar glioma (HP:0010795): A glioma affecting the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Brainstem glioma (HP:0010796): A glioma affecting the brainstem. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Cerebral artery stenosis (HP:0012492): Narrowing or constriction of the inner surface (lumen) of a cerebral artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Pheochromocytoma (HP:0002666): Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Rhabdomyosarcoma (HP:0002859). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Glomus jugular tumor (HP:0003001). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Diaphyseal dysplasia (HP:0100252). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Gastrointestinal stroma tumor (HP:0100723). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Dural ectasia (HP:0100775): A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Brain neoplasm (HP:0030692): A benign or malignant neoplasm that arises from or metastasizes to the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Multiple mucosal neuromas (HP:0031023): Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Narrowing of medullary canal (HP:0032458): A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Schwannoma (HP:0100008): A benign nerve sheath tumor composed of Schwann cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Malignant peripheral nerve sheath tumor (HP:0100697): Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Renovascular hypertension (HP:0100817): The presence of hypertension related to stenosis of the renal artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Abnormality of the sphenoid sinus (HP:0430022): An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- Abnormal internal carotid artery morphology (HP:3000062): An abnormality of an internal carotid artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97685)
- 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: Very rare (HP:0040284). (ORPHA:97685)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97685)
These phenotypes are associated with the disease 17q11 microdeletion syndrome (ORPHA:97685).