- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163665)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163665)
- Abnormal ilium morphology (HP:0002867): An abnormality of the ilium, the largest and uppermost bone of the pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163665)
- Abnormality of the ankle (HP:0003028): An anomaly of the joint that connects the foot with the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163665)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163665)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163665)
- 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: Frequent (HP:0040282). (ORPHA:163665)
- Restricted large joint movement (HP:0005193). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163665)
- Bilateral coxa valga (HP:0010665): The presence of bilateral coxa valga. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:163665)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163665)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:163665)
These phenotypes are associated with the disease Spondyloepiphyseal dysplasia tarda, Kohn type (ORPHA:163665).