Phenotypes associated with the disease dwarfism, proportionate, with hip dislocation (OMIM:223550):
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: IEA. (OMIM:223550)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: IEA. (OMIM:223550)
- 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:223550)