Adams-Oliver syndrome 6
MONDO:0014703Mondo
Findings
No curated finding names Adams-Oliver syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014703), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Aplasia cutis congenita of scalpHPOHP:0007385
- 16 of 23 reported patients
- BrachydactylyHPOHP:0001156
- 8 of 23 reported patients
- SyndactylyHPOHP:0001159
- 4 of 23 reported patients
- Calvarial skull defectHPOHP:0001362
- 3 of 23 reported patients
- Cutis marmorataHPOHP:0000965
- 2 of 23 reported patients
- Ventricular septal defectHPOHP:0001629
- 2 of 23 reported patients
- Esophageal varixHPOHP:0002040
Show the remaining 3
- SplenomegalyHPOHP:0001744
- 1 of 23 reported patients
- Tricuspid regurgitationHPOHP:0005180
- 1 of 23 reported patients
- Truncus arteriosusHPOHP:0001660
- 1 of 23 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.
- DLL4HGNC:2910
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: Adams-Oliver syndrome 6
- Also called
- Adams-Oliver syndrome caused by mutation in DLL4Adams-Oliver syndrome type 6DLL4 Adams-Oliver syndrome