vertebral anomalies and variable endocrine and T-cell dysfunction
MONDO:0032607Mondo
Findings
No curated finding names vertebral anomalies and variable endocrine and T-cell dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 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.
- Cleft palateHPOHP:0000175
- 3 of 4 reported patients
- Contracture of the proximal interphalangeal joint of the 3rd fingerHPOHP:0009471
- 3 of 4 reported patients
- Contracture of the proximal interphalangeal joint of the 4th fingerHPOHP:0009276
- 3 of 4 reported patients
- Cupped earHPOHP:0000378
- 3 of 4 reported patients
- EpicanthusHPOHP:0000286
- 3 of 4 reported patients
- HypertelorismHPOHP:0000316
- 3 of 4 reported patients
- Low-set earsHPOHP:0000369
- 3 of 4 reported patients
- Sprengel anomalyHPOHP:0000912
- 3 of 4 reported patients
- Ectopia pupillaeHPOHP:0009918
- 2 of 4 reported patients
- ScoliosisHPOHP:0002650
- 2 of 4 reported patients
- Short statureHPOHP:0004322
- 2 of 4 reported patients
- Triangular faceHPOHP:0000325
- 2 of 4 reported patients
Show the remaining 26
- Abnormal B cell morphologyHPOHP:0002846
- 1 of 4 reported patients
- Aplasia of the thymusHPOHP:0005359
- 1 of 4 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 4 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 4 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 4 reported patients
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.
- TBX2HGNC:11597
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Illumina · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of