skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
MONDO:0033682Mondo
Findings
No curated finding names skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
95 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.
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Severe platyspondylyHPOHP:0004565
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal ilium morphologyHPOHP:0002867
- Frequent (30% to 79% of cases)
- Abnormal limb bone morphologyHPOHP:0002813
- Frequent (30% to 79% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Frequent (30% to 79% of cases)
- Abnormality of the cervical spineHPOHP:0003319
- Frequent (30% to 79% of cases)
- Acetabular dysplasiaHPOHP:0008807
- Frequent (30% to 79% of cases)
- Aplasia/hypoplasia involving bones of the extremitiesHPOHP:0045060
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
Show the remaining 83
- Broad metacarpalsHPOHP:0001230
- Frequent (30% to 79% of cases)
- Broad phalanges of the handHPOHP:0009768
- Frequent (30% to 79% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Frequent (30% to 79% of cases)
- Decreased mitogen-induced T-cell proliferationHPOHP:0031381
- Frequent (30% to 79% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- Frequent (30% to 79% of cases)
- Decreased total T cell countHPOHP:0005403