- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:10)
- Infertility (HP:0000789). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:10)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:10)
- 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: Very frequent (HP:0040281). (ORPHA:10)
- 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: Very frequent (HP:0040281). (ORPHA:10)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:10)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:10)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Thick lower lip vermilion (HP:0000179): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- 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:10)
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- 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: Frequent (HP:0040282). (ORPHA:10)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- 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: Frequent (HP:0040282). (ORPHA:10)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Taurodontia (HP:0000679): Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- 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:10)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Abnormal shoulder morphology (HP:0003043): An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- 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: Frequent (HP:0040282). (ORPHA:10)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Open bite (HP:0010807): Visible space between the dental arches in occlusion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:10)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- 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:10)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Motor stereotypy (HP:0000733): Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- 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:10)
- 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:10)
- 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:10)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- 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: Occasional (HP:0040283). (ORPHA:10)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Broad jaw (HP:0012802): Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:10)
These phenotypes are associated with the disease 48,XXYY syndrome (ORPHA:10).