Phenotypes associated with the disease osteogenesis imperfecta type 6 (OMIM:613982):
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/4. (PMID:21353196)
- Biconcave vertebral bodies (HP:0004586): Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. Evidence: TAS. (OMIM:613982)
- Protrusio acetabuli (HP:0003179): Intrapelvic bulging of the medial acetabular wall. Evidence: TAS. (OMIM:613982)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 0/4. (PMID:21353196)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 4/4. (PMID:21353196)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 4/4. (PMID:21353196)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:21353196)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 4/4. (PMID:21353196)
- Elevated circulating deoxypyridinoline concentration (HP:0033154): An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:21353196)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: PCS. Frequency: 4/4. (PMID:21353196)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21353196)
- 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: TAS. (OMIM:613982)
- Dentinogenesis imperfecta (HP:0000703): Developmental dysplasia of dentin. Evidence: PCS. Frequency: 0/4. (PMID:21353196)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 4/4. (PMID:21353196)
- 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: PCS. Frequency: 4/4. (PMID:21353196)
- Bowing of the arm (HP:0006488): A bending or abnormal curvature affecting a long bone of the arm. Evidence: PCS. Frequency: 4/4. (PMID:21353196)
- Vertebral compression fracture (HP:0002953). Evidence: PCS. Frequency: 4/4. (PMID:21353196)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: TAS. (OMIM:613982)