- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: PCS. Frequency: 0/2. (PMID:12833413)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 0/2. (PMID:12833413)
- 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:271530)
- Short iliac bones (HP:0100866): Underdevelopment of the iliac bones. Evidence: TAS. (OMIM:271530)
- 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: TAS. (OMIM:271530)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/2. (PMID:12833413)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: IEA. (OMIM:271530)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: PCS. Frequency: 2/2. (PMID:12833413)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: PCS. Frequency: 2/2. (PMID:12833413)
- Squared-off platyspondyly (HP:0008418). Evidence: IEA. (OMIM:271530)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:12833413)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:271530)
- Flattened proximal radial epiphyses (HP:0005004): An abnormally flat form of the proximal epiphysis of the radius. Evidence: IEA. (OMIM:271530)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:271530)
- Increased upper to lower segment ratio (HP:0012774): Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Evidence: PCS. Frequency: 2/2. (PMID:12833413)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: IEA. (OMIM:271530)
- Lumbar hypolordosis (HP:0034770): Flattening of a curve in the spine in the lumbar (lower back) region. Evidence: PCS. Frequency: 1/2. (PMID:12833413)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 1/2. (PMID:12833413)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 2/2. (PMID:12833413)
- 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: IEA. (OMIM:271530)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: IEA. (OMIM:271530)
- Intervertebral space narrowing (HP:0002945): Decreased height of the intervertebral disk. Evidence: PCS. Frequency: 2/2. (PMID:12833413)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: PCS. Frequency: 1/2. (PMID:12833413)
- Thoracic scoliosis (HP:0002943). Evidence: PCS. Frequency: 1/2. (PMID:12833413)
- Sclerotic foci of metaphyses of the elbow (HP:0003952). Evidence: IEA. (OMIM:271530)
These phenotypes are associated with the disease brachyolmia type 1, Hobaek type (OMIM:271530).