Adams-Oliver syndrome 2
MONDO:0013635Mondo
Findings
No curated finding names Adams-Oliver syndrome 2 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 DOCK6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013635), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive 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 congenitaHPOHP:0001057
- 2 of 2 reported patients
- Aplasia of distal finger phalanxHPOHP:0009881
- 2 of 2 reported patients
- AlopeciaHPOHP:0001596
- 1 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 2 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- HydrocephalusHPOHP:0000238
Show the remaining 3
- Severe global developmental delayHPOHP:0011344
- 1 of 2 reported patients
- Short middle phalanx of fingerHPOHP:0005819
- 1 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 1 of 2 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.
- DOCK6HGNC:19189
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: Adams-Oliver syndrome 2
- Also called
- Adams-Oliver syndrome caused by mutation in DOCK6Adams-Oliver syndrome type 2DOCK6 Adams-Oliver syndrome