lethal congenital contracture syndrome 9
Findings
No curated finding names lethal congenital contracture syndrome 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014670), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Third trimester onset · Second trimester onset
HPO, annotations 2026-09-02
Features
31 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 4 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 4 reported patients
- Talipes equinovarusHPOHP:0001762
- 3 of 4 reported patients
- Decreased fetal movementHPOHP:0001558
- 2 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 4 reported patients
- Low-set earsHPOHP:0000369
- 2 of 4 reported patients
- PolyhydramniosHPOHP:0001561
Show the remaining 19
- Axillary pterygiumHPOHP:0001060
- 1 of 4 reported patients
- Cardiorespiratory arrestHPOHP:0006543
- 1 of 4 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 4 reported patients
- Elbow extension contractureHPOHP:0034393
- 1 of 4 reported patients
- Flexion contractureHPOHP:0001371
- 1 of 4 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.
- ADGRG6HGNC:13841
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2015
Where it sits
Other names
3 names
Resolves to: lethal congenital contracture syndrome 9
- Also called
- ADGRG6 lethal congenital contracture syndromelethal congenital contracture syndrome caused by mutation in ADGRG6lethal congenital contracture syndrome type 9