- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/2. (PMID:25343988)
- Hemivertebrae (HP:0002937, a Human Phenotype Ontology term): Absence of one half of the vertebral body. Evidence: PCS. Frequency: 2/2. (PMID:25343988)
- 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: PCS. (PMID:25343988)
- Cervical kyphosis (HP:0002947, a Human Phenotype Ontology term): Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. Evidence: PCS. Frequency: 1/2. (PMID:25343988)
- Butterfly vertebrae (HP:0003316, a Human Phenotype Ontology term): A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. Evidence: PCS. Frequency: 1/2. (PMID:25343988)
- Spinal canal stenosis (HP:0003416, a Human Phenotype Ontology term): An abnormal narrowing of the spinal canal. Evidence: PCS. Frequency: 1/2. (PMID:25343988)
These phenotypes are associated with the disease spondylocostal dysostosis 6, autosomal recessive (OMIM:616566, an entry in Online Mendelian Inheritance in Man).