- Abnormality of body height (HP:0000002): Deviation from the norm of height with respect to that which is expected according to age and gender norms. Evidence: PCS. Frequency: 0/10. (PMID:12579474)
- Sclerotic vertebral body (HP:0100861): Increase in bone density of the vertebral body. Evidence: TAS. (OMIM:144750)
- Hyperostosis (HP:0100774): Excessive growth or abnormal thickening of bone tissue. Evidence: IEA. (OMIM:144750)
- Clavicular sclerosis (HP:0100923): An increase in bone density within the clavicle. Evidence: TAS. (OMIM:144750)
- Growth abnormality (HP:0001507). Evidence: IEA. (OMIM:144750)
- Metacarpal diaphyseal endosteal sclerosis (HP:0006174): Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. Evidence: IEA. (OMIM:144750)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:144750)
- Thickened cortex of long bones (HP:0000935): Abnormal thickening of the cortex of long bones. Evidence: IEA. (OMIM:144750)
- Torus palatinus (HP:0100789): A bony protrusion present on the midline of the hard palate. Evidence: PCS. (PMID:12579474)
- Metatarsal diaphyseal endosteal sclerosis (HP:0008114): Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. Evidence: IEA. (OMIM:144750)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. (OMIM:144750)
- 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:12579474)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: IEA. (OMIM:144750)
- Flat forehead (HP:0004425): A forehead with abnormal flatness. Evidence: TAS. (OMIM:144750)
These phenotypes are associated with the disease autosomal dominant osteosclerosis, Worth type (OMIM:144750).