- 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. (OMIM:313400)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:313400)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:14755465)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. (OMIM:313400)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: PCS. Frequency: 2/2. (PMID:14755465)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: IEA. (OMIM:313400)
- Hump-shaped mound of bone in central and posterior portions of vertebral endplate (HP:0004594). Evidence: PCS. Frequency: 2/2. (PMID:14755465)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:313400)
- Hypoplasia of the capital femoral epiphysis (HP:0003090): Underdevelopment of the proximal epiphysis of the femur. Evidence: TAS. (OMIM:313400)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: PCS. Frequency: 1/1. (PMID:14755465)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:313400)
- Shield chest (HP:0000914): A broad chest. Evidence: TAS. (OMIM:313400)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: IEA. (OMIM:313400)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:10431248)
- Irregular epiphyses (HP:0010582): An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. Evidence: TAS. (OMIM:313400)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. (OMIM:313400)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 2/2. (PMID:14755465)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. (OMIM:313400)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 2/2. Onset: Juvenile onset (HP:0003621). (PMID:14755465)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: PCS. Frequency: 2/2. Onset: Juvenile onset (HP:0003621). (PMID:14755465)
- Hip osteoarthritis (HP:0008843). Evidence: TAS. (OMIM:313400)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: TAS. (OMIM:313400)
- Spondyloepiphyseal dysplasia (HP:0002655): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: TAS. (OMIM:313400)
These phenotypes are associated with the disease spondyloepiphyseal dysplasia tarda, X-linked (OMIM:313400).