spondylocostal dysostosis 7, autosomal recessive
MONDO:0981023Mondo
Findings
No curated finding names spondylocostal dysostosis 7, autosomal recessive 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
- Congenital onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
49 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.
- Aberrant right subclavian arteryHPOHP:0031632
- 1 of 1 reported patient
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 1 of 1 reported patient
- Absent circulating T cellsHPOHP:0025805
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Bifid ribsHPOHP:0000892
- 1 of 1 reported patient
- Bilateral cleft palateHPOHP:0100337
- 1 of 1 reported patient
- Bilateral single transverse palmar creasesHPOHP:0007598
- 1 of 1 reported patient
- BradycardiaHPOHP:0001662
- 1 of 1 reported patient
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Butterfly vertebraeHPOHP:0003316
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
Show the remaining 37
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Delayed pubic bone ossificationHPOHP:0008788
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypoxemiaHPOHP:0012418
- 1 of 1 reported patient
- Increased CD4:CD8 ratioHPOHP:0033221
- 1 of 1 reported patient
- Increased circulating IgA concentrationHPOHP:0003261
- 1 of 1 reported patient
Where it sits
- A kind of