Desbuquois dysplasia 1
MONDO:0009629Mondo
Findings
No curated finding names Desbuquois dysplasia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009629), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Disproportionate short-limb short statureHPOHP:0008873
- 7 of 7 reported patients · Congenital onset
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- HyperlordosisHPOHP:0003307
- 4 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 7 of 7 reported patients · Congenital onset
- Joint hypermobilityHPOHP:0001382
- 7 of 7 reported patients
- Malar flatteningHPOHP:0000272
- 7 of 7 reported patients
- MicroretrognathiaHPOHP:0000308
- 7 of 7 reported patients
- ObesityHPOHP:0001513
- 4 of 4 reported patients · Adult onset
- Round faceHPOHP:0000311
- 7 of 7 reported patients
- Radial deviation of the 2nd fingerHPOHP:0009467
- 6 of 7 reported patients
- Short neckHPOHP:0000470
- 6 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 4 reported patients
Show the remaining 12
- ScoliosisHPOHP:0002650
- 3 of 4 reported patients
- Concave nasal ridgeHPOHP:0011120
- 5 of 7 reported patients
- Narrow chestHPOHP:0000774
- 5 of 7 reported patients
- Long philtrumHPOHP:0000343
- 4 of 7 reported patients
- Smooth philtrumHPOHP:0000319
- 4 of 7 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 3 of 9 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.
- CANT1HGNC:19721
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: Desbuquois dysplasia 1
- Also called
- CANT1 Desbuquois dysplasiaDesbuquois dysplasia caused by mutation in CANT1Desbuquois dysplasia type 1