- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. (OMIM:615220)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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. (OMIM:615220)
- Cerebellar hypoplasia (HP:0001321, a Human Phenotype Ontology term): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: IEA. (OMIM:615220)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): 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: 3/9. (PMID:23499309)
- Bowing of limbs due to multiple fractures (HP:0003023, a Human Phenotype Ontology term): Curvature of the shafts of the long bones due to multiple fractures. Evidence: PCS. Frequency: 9/9. (PMID:23499309)
- Blue sclerae (HP:0000592, a Human Phenotype Ontology term): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 6/9. (PMID:23499309)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: 1/9. (PMID:23499309)
- Schizencephaly (HP:0010636, a Human Phenotype Ontology term): The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. Evidence: IEA. (OMIM:615220)
- Hypoplasia of the pons (HP:0012110, a Human Phenotype Ontology term): Underdevelopment of the pons. Evidence: TAS. (OMIM:615220)
- Platyspondyly (HP:0000926, a Human Phenotype Ontology term): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. (OMIM:615220)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: TAS. (OMIM:615220)
- Recurrent fractures (HP:0002757, a Human Phenotype Ontology term): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 9/9. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:23499309)
- Thin ribs (HP:0000883, a Human Phenotype Ontology term): Ribs with a reduced diameter. Evidence: TAS. (OMIM:615220)
These phenotypes are associated with the disease osteogenesis imperfecta type 15 (OMIM:615220, an entry in Online Mendelian Inheritance in Man).