- Elevated serum acid phosphatase (HP:0003148). Evidence: PCS. Frequency: 0/10. (PMID:12579474)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: IEA. (OMIM:607634)
- Calvarial osteosclerosis (HP:0005450): An increase in bone density affecting the calvaria (roof of the skull). Evidence: PCS. Frequency: 3/10. (PMID:12579474)
- Abnormality of the vertebral column (HP:0000925): Any abnormality of the vertebral column. Evidence: IEA. (OMIM:607634)
- Osteopetrosis (HP:0011002): Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. Evidence: PCS. (PMID:12579474)
- Thickened cortex of long bones (HP:0000935): Abnormal thickening of the cortex of long bones. Evidence: PCS. Frequency: 4/10. (PMID:12579474)
- Torus palatinus (HP:0100789): A bony protrusion present on the midline of the hard palate. Evidence: PCS. Frequency: 3/10. (PMID:12579474)
- Mandibular pain (HP:0200025): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. Evidence: PCS. Frequency: 1/10. (PMID:12579474)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 0/10. (PMID:12579474)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: IEA. (OMIM:607634)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 2/10. (PMID:12579474)
- 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:607634)
- Generalized osteosclerosis (HP:0005789): An abnormal increase of bone mineral density with generalized involvement of the skeleton. Evidence: IEA. (OMIM:607634)
These phenotypes are associated with the disease autosomal dominant osteopetrosis 1 (OMIM:607634).