- 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:77301)
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Trigonocephaly (HP:0000243): Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- 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: Very frequent (HP:0040281). (ORPHA:77301)
- 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 frequent (HP:0040281). (ORPHA:77301)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- 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: Very frequent (HP:0040281). (ORPHA:77301)
- Retinopathy (HP:0000488): Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Abnormality of the vertebral column (HP:0000925): Any abnormality of the vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- 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:77301)
- 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: Very frequent (HP:0040281). (ORPHA:77301)
- 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:77301)
- Large for gestational age (HP:0001520): The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- 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: Very frequent (HP:0040281). (ORPHA:77301)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Medulloblastoma (HP:0002885): A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Calcification of falx cerebri (HP:0005462): The presence of calcium deposition in the falx cerebri. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Odontogenic keratocysts of the jaw (HP:0010603): A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Palmar pits (HP:0010610). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Plantar pits (HP:0010612): The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Cardiac fibroma (HP:0010617): A fibroma of the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Ovarian fibroma (HP:0010618): The presence of a fibroma of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Metopic synostosis (HP:0011330): Premature fusion of the metopic suture. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:77301)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- 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:77301)
- 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: Frequent (HP:0040282). (ORPHA:77301)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Accelerated skeletal maturation (HP:0005616): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Thickened ears (HP:0009894): Increased thickness of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:77301)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:77301)
- Rhabdomyosarcoma (HP:0002859). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:77301)
These phenotypes are associated with the disease Monosomy 9q22.3 syndrome (ORPHA:77301).