geleophysic dysplasia 3
MONDO:0054722Mondo
Findings
No curated finding names geleophysic dysplasia 3 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
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- BrachydactylyHPOHP:0001156
- 3 of 3 reported patients
- Bulbous noseHPOHP:0000414
- 3 of 3 reported patients
- Hoarse voiceHPOHP:0001609
- 3 of 3 reported patients
- Round faceHPOHP:0000311
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Limited elbow movementHPOHP:0002996
- 2 of 3 reported patients
- Limited wrist movementHPOHP:0006248
- 2 of 3 reported patients
- Subglottic stenosisHPOHP:0001607
- 2 of 3 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 3 reported patients
- Full cheeksHPOHP:0000293
- 1 of 3 reported patients
- Mitral regurgitationHPOHP:0001653
- 1 of 3 reported patients
Show the remaining 4
- Premature birthHPOHP:0001622
- 1 of 3 reported patients
- Thick vermilion borderHPOHP:0012471
- 1 of 3 reported patients
- Wide nasal bridgeHPOHP:0000431
- 1 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 0 of 3 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.
- LTBP3HGNC:6716
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of