- Limitation of joint mobility (HP:0001376, a Human Phenotype Ontology term): A reduction in the freedom of movement of one or more joints. Evidence: IEA. (OMIM:228020)
- Lower-limb joint contracture (HP:0005750, a Human Phenotype Ontology term): A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. Evidence: IEA. (OMIM:228020)
- Abnormality of the respiratory system (HP:0002086, a Human Phenotype Ontology term): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: IEA. (OMIM:228020)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:228020)
- Abnormal thorax morphology (HP:0000765, a Human Phenotype Ontology term): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: IEA. (OMIM:228020)
- Abnormality of the skin (HP:0000951, a Human Phenotype Ontology term): An abnormality of the skin. Evidence: IEA. (OMIM:228020)
These phenotypes are associated with the disease fascial dystrophy, congenital (OMIM:228020, an entry in Online Mendelian Inheritance in Man).