geleophysic dysplasia 1
Findings
No curated finding names geleophysic dysplasia 1 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 ADAMTSL2 gene.
Definition from the Mondo Disease Ontology (MONDO:0009269), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Joint stiffnessHPOHP:0001387
- 20 of 20 reported patients
- Short long boneHPOHP:0003026
- 15 of 15 reported patients
- Short statureHPOHP:0004322
- 20 of 20 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 18 of 18 reported patients
- Long philtrumHPOHP:0000343
- 18 of 19 reported patients
- Round faceHPOHP:0000311
- 14 of 15 reported patients
- Wide nasal bridgeHPOHP:0000431
Show the remaining 8
- Cone-shaped epiphysisHPOHP:0010579
- 5 of 8 reported patients
- PlatyspondylyHPOHP:0000926
- 5 of 8 reported patients
- Ovoid vertebral bodiesHPOHP:0003300
- 6 of 10 reported patients
- Abnormally high-pitched voiceHPOHP:0001620
- 6 of 11 reported patients
- Laryngotracheal stenosisHPOHP:0004894
- 6 of 13 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 6 of 15 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.
- ADAMTSL2HGNC:14631
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: geleophysic dysplasia 1
- Also called
- ADAMTSL2 geleophysic dysplasiageleophysic dysplasia caused by mutation in ADAMTSL2Geleophysic dysplasia type 1