Phenotypes associated with the disease osteodysplasty, precocious, of Danks, Mayne, and Kozlowski (OMIM:259270):
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: PCS. (OMIM:259270)
- Abnormal long bone morphology (HP:0011314): An abnormality of size or shape of the long bones. Evidence: PCS. (OMIM:259270)
- 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:259270)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (OMIM:259270)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:259270)
- Abnormal pelvic girdle bone morphology (HP:0002644): An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. Evidence: PCS. (OMIM:259270)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: PCS. (OMIM:259270)