- 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: Frequent (HP:0040282). (ORPHA:1446)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- 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: Frequent (HP:0040282). (ORPHA:1446)
- 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:1446)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- 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: Frequent (HP:0040282). (ORPHA:1446)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Inappropriate behavior (HP:0000719): An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- 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: Frequent (HP:0040282). (ORPHA:1446)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Neurofibroma (HP:0001067): A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Large hands (HP:0001176). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- 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:1446)
- 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: Frequent (HP:0040282). (ORPHA:1446)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Protruding tongue (HP:0010808): Tongue extending beyond the alveolar ridges or teeth at rest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Wide nasal base (HP:0012810): Increased distance between the attachments of the alae nasi to the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Toenail dysplasia (HP:0100797): An abnormality of the development of the toenails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1446)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1446)
- Absent septum pellucidum (HP:0001331): Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1446)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1446)
These phenotypes are associated with the disease Ring chromosome 22 syndrome (ORPHA:1446).