- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. (OMIM:600969)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:10655510)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 2/8. (PMID:10090888)
- Limited knee extension (HP:0003066): Reduced ability to extend (straighten) the knee joint. Evidence: PCS. Frequency: 4/8. (PMID:10090888)
- Abnormal hip joint morphology (HP:0001384): An abnormality of the hip joint. Evidence: TAS. (OMIM:600969)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. (OMIM:600969)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: PCS. Frequency: 6/8. (PMID:10090888)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. (OMIM:600969)
- Mildly elevated creatine kinase (HP:0008180). Evidence: TAS. (OMIM:600969)
- Irregular epiphyses (HP:0010582): An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. Evidence: TAS. (OMIM:600969)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. (OMIM:600969)
- Epiphyseal dysplasia (HP:0002656). Evidence: TAS. (OMIM:600969)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. (PMID:10655510)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10090888)
- Mild short stature (HP:0003502): A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. Evidence: TAS. (OMIM:600969)
These phenotypes are associated with the disease epiphyseal dysplasia, multiple, 3 (OMIM:600969).