- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- Osteochondroma (HP:0030431): A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- B-cell lymphoma (HP:0012191): A type of lymphoma that originates in B-cells. Evidence: PCS. Frequency: 1/1. Onset: Early young adult onset (HP:0025708). (PMID:35789258)
- 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: PCS. (PMID:35789258)
- Ankle flexion contracture (HP:0006466). Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- Cervical spinal canal stenosis (HP:0008445): An abnormal narrowing of the cervical spinal canal. Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- Generalized lymphadenopathy (HP:0008940): A generalized form of lymphadenopathy. Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- Vertebral compression fracture (HP:0002953). Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: PCS. Frequency: 1/1. (PMID:35789258)
- Burkitt lymphoma (HP:0030080): A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. Evidence: PCS. Frequency: 1/1. Onset: Intermediate young adult onset (HP:0025709). (PMID:35789258)
These phenotypes are associated with the disease joint contractures, osteochondromas, and B-cell lymphoma (OMIM:620232).