Phenotypes associated with the disease osteogenesis imperfecta type 14 (OMIM:615066):
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 3/11. (PMID:28323974;PMID:26911354)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/2. (PMID:26911354)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 2/8. Onset: Antenatal onset (HP:0030674). (PMID:28323974)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 1/1. (PMID:26911354)
- 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: PCS. Frequency: 2/11. (PMID:28323974;PMID:26911354)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 2/8. (PMID:28323974)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: PCS. Frequency: 3/3. (PMID:26911354)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/3. (PMID:26911354)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/8. (PMID:28323974)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 4/11. (PMID:28323974;PMID:26911354)
- Abnormal circulating calcium concentration (HP:0004363): Any deviation from the normal concentration of calcium in the blood circulation. Evidence: PCS. Frequency: 0/3. (PMID:26911354)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/8. (PMID:28323974)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 2/8. (PMID:28323974)
- Elevated circulating beta-CTX concentration (HP:0031425): The concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:26911354)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: 3/3. (PMID:26911354)
- 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: PCS. Frequency: 2/8. (PMID:28323974)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/11. (PMID:28323974;PMID:26911354)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 8/8. (PMID:28323974)
- 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:28323974)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 8/9. (PMID:28323974;PMID:26911354)
- Dentinogenesis imperfecta (HP:0000703): Developmental dysplasia of dentin. Evidence: PCS. Frequency: 0/2. (PMID:26911354)
- 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. (PMID:28323974)
- 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: PCS. Frequency: 0/3. (PMID:26911354)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: PCS. Frequency: 3/3. (PMID:26911354)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/11. (PMID:28323974;PMID:26911354)