geleophysic dysplasia 2
MONDO:0013612Mondo
Findings
No curated finding names geleophysic dysplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013612), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
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.
- Limitation of joint mobilityHPOHP:0001376
- 19 of 19 reported patients
- Short footHPOHP:0001773
- 19 of 19 reported patients
- Short palmHPOHP:0004279
- 19 of 19 reported patients
- Short statureHPOHP:0004322
- 19 of 19 reported patients
- HepatomegalyHPOHP:0002240
- 5 of 19 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 5 of 19 reported patients
- Tricuspid stenosisHPOHP:0010446
Show the remaining 12
- HypertelorismHPOHP:0000316
- Joint stiffnessHPOHP:0001387
- Long philtrumHPOHP:0000343
- Mitral regurgitationHPOHP:0001653
- Mitral stenosisHPOHP:0001718
- Mitral valve prolapseHPOHP:0001634
- Ovoid vertebral bodiesHPOHP:0003300
- Short noseHPOHP:0003196
Where it sits
- A kind of
Other names
3 names
Resolves to: geleophysic dysplasia 2
- Also called
- FBN1 geleophysic dysplasiageleophysic dysplasia caused by mutation in FBN1Geleophysic dysplasia type 2