- 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: Frequent (HP:0040282). (ORPHA:1702)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- 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:1702)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- 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:1702)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- Abnormal eyelash morphology (HP:0000499): An abnormality of the eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
- Abnormality of chromosome segregation (HP:0002916): An abnormality of chromosome segregation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- 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: Very frequent (HP:0040281). (ORPHA:1702)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Aplasia/Hypoplasia affecting the eye (HP:0008056). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1702)
- Abnormal antihelix morphology (HP:0009738): An abnormality of the antihelix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Aplasia/Hypoplasia of the earlobes (HP:0009906): Absence or underdevelopment of the ear lobes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1702)
- Hernia (HP:0100790). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1702)
These phenotypes are associated with the disease Non-distal duplication 13q syndrome (ORPHA:1702).