- Osteoarthritis of the small joints of the hand (HP:0004268). Evidence: IEA. (OMIM:601344)
- 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: IEA. (OMIM:601344)
- Narrow anterio-posterior vertebral body diameter (HP:0008473): An abnormal reduction of the anterioposterior diameter of the vertebral body. Evidence: IEA. (OMIM:601344)
- Absent spinous processes of lower thoracic and lumbar vertebrae (HP:0008464). Evidence: IEA. (OMIM:601344)
- 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: IEA. (OMIM:601344)
- Thoracolumbar scoliosis (HP:0002944). Evidence: IEA. (OMIM:601344)
- Spinal dysplasia (HP:0008423): The presence of developmental dysplasia of the vertebral column. Evidence: IEA. (OMIM:601344)
- Thoracic hemivertebrae (HP:0008467): Absence of one half of the vertebral body in the thoracic spine. Evidence: IEA. (OMIM:601344)
- 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: IEA. (OMIM:601344)
These phenotypes are associated with the disease spinal dysplasia, Anhalt type (OMIM:601344).