- Otosclerosis (HP:0000362): In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. Evidence: TAS. (OMIM:166220)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. (OMIM:166220)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. (OMIM:166220)
- Biconcave flattened vertebrae (HP:0003321). Evidence: TAS. (OMIM:166220)
- Femoral bowing present at birth, straightening with time (HP:0005005): Congenital onset bending or abnormal curvature of the femur that normalizes with age. Evidence: TAS. (OMIM:166220)
- 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: TAS. Onset: Infantile onset (HP:0003593). (OMIM:166220)
- Bowing of limbs due to multiple fractures (HP:0003023): Curvature of the shafts of the long bones due to multiple fractures. Evidence: TAS. (OMIM:166220)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: TAS. (OMIM:166220)
- Popcorn calcification (HP:6000871): Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate. Evidence: PCS. Frequency: 2/20. (PMID:18798308)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. (OMIM:166220)
- Dentinogenesis imperfecta (HP:0000703): Developmental dysplasia of dentin. Evidence: TAS. (OMIM:166220)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. (OMIM:166220)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. (OMIM:166220)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: TAS. (OMIM:166220)
- 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: TAS. (OMIM:166220)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: PCS. (PMID:19533842)
These phenotypes are associated with the disease osteogenesis imperfecta type 4 (OMIM:166220).