- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. (OMIM:211990)
- 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: TAS. (OMIM:211990)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. (OMIM:211990)
These phenotypes are associated with the disease camptomelic syndrome, long-limb type (OMIM:211990).