- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- 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:1816)
- Abnormal eyebrow morphology (HP:0000534): An abnormality of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- 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: Very frequent (HP:0040281). (ORPHA:1816)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- 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:1816)
- Generalized hirsutism (HP:0002230): Abnormally increased hair growth over much of the entire body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Irregular hyperpigmentation (HP:0007400). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Generalized hypopigmentation (HP:0007513). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
- Shagreen patch (HP:0009721): A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1816)
These phenotypes are associated with the disease Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome (ORPHA:1816).