- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:140936)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:140936)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:140936)
- Abnormality of the mouth (HP:0000153): An abnormality of the mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:140936)
- Furrowed tongue (HP:0000221): Accentuation of the grooves on the dorsal surface of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140936)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140936)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140936)
- 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: Frequent (HP:0040282). (ORPHA:140936)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140936)
- Perioral hyperpigmentation (HP:0010802): Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140936)
- 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:140936)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140936)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140936)
- 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: Occasional (HP:0040283). (ORPHA:140936)
- 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: Occasional (HP:0040283). (ORPHA:140936)
- Vitiligo (HP:0001045). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140936)
- Abnormally high-pitched voice (HP:0001620): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140936)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140936)
- Absent lower eyelashes (HP:0007646): Lack of eyelashes on the lower lid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140936)
- Abnormal toenail morphology (HP:0008388): An anomaly of the toenail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140936)
- Yellow nails (HP:0011367): Yellowish discoloration of the nails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140936)
- 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: Occasional (HP:0040283). (ORPHA:140936)
These phenotypes are associated with the disease Lelis syndrome (ORPHA:140936).