joint contractures, osteochondromas, and B-cell lymphoma
MONDO:0859369Mondo
Findings
No curated finding names joint contractures, osteochondromas, and B-cell lymphoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ankle flexion contractureHPOHP:0006466
- 1 of 1 reported patient
- B-cell lymphomaHPOHP:0012191
- 1 of 1 reported patient · Early young adult onset
- Burkitt lymphomaHPOHP:0030080
- 1 of 1 reported patient · Intermediate young adult onset
- Cervical spinal canal stenosisHPOHP:0008445
- 1 of 1 reported patient
- Generalized lymphadenopathyHPOHP:0008940
- 1 of 1 reported patient
- Hip contractureHPOHP:0003273
- 1 of 1 reported patient
- Knee flexion contractureHPOHP:0006380
- 1 of 1 reported patient
- OsteochondromaHPOHP:0030431
- 1 of 1 reported patient
- Reduced bone mineral densityHPOHP:0004349
- 1 of 1 reported patient
- Vertebral compression fractureHPOHP:0002953
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NFATC2HGNC:7776
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of