- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. (OMIM:271630)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: PCS. Frequency: 4/4. (PMID:122434)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: IEA. (OMIM:271630)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:271630)
- Squared-off platyspondyly (HP:0008418). Evidence: IEA. (OMIM:271630)
- Abnormal odontoid process morphology (HP:0003310): Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. Evidence: PCS. Frequency: 0/4. (PMID:122434)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:271630)
- Precocious costochondral ossification (HP:0006607): Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. Evidence: IEA. (OMIM:271630)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:271630)
- Increased urinary disaccharide excretion (HP:0012066): Increased concentration of disaccharide in the urine. Evidence: TAS. (OMIM:271630)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: IEA. (OMIM:271630)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 4/4. (PMID:122434)
- 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:122434)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: IEA. (OMIM:271630)
- Intervertebral space narrowing (HP:0002945): Decreased height of the intervertebral disk. Evidence: IEA. (OMIM:271630)
- Broad tibial metaphyses (HP:0006413). Evidence: IEA. (OMIM:271630)
- Childhood-onset short-trunk short stature (HP:0008922): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. Evidence: IEA. (OMIM:271630)
These phenotypes are associated with the disease brachyolmia type 1, toledo type (OMIM:271630).