- 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: Very frequent (HP:0040281). (ORPHA:178303)
- Mask-like facies (HP:0000298): A lack of facial expression often with staring eyes and a slightly open mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- 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: Very frequent (HP:0040281). (ORPHA:178303)
- 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:178303)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Underfolded helix (HP:0008577): Underdevelopment of the helix that either affects the entire helix, or is localized. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Abnormal antihelix morphology (HP:0009738): An abnormality of the antihelix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Abnormal hair pattern (HP:0010720): An abnormality of the distribution of hair growth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Skin dimple (HP:0010781): Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Conspicuously happy disposition (HP:0100024): An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Lack of skin elasticity (HP:0100679). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:178303)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- 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:178303)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- Sandal gap (HP:0001852): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:178303)
- Submucous cleft hard palate (HP:0000176): Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:178303)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:178303)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:178303)
- Abnormal nostril morphology (HP:0005288): Abnormality of the nostril. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:178303)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:178303)
These phenotypes are associated with the disease 8q22.1 microdeletion syndrome (ORPHA:178303).