Adams-Oliver syndrome 3
MONDO:0013895Mondo
Findings
No curated finding names Adams-Oliver syndrome 3 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 RBPJ gene.
Definition from the Mondo Disease Ontology (MONDO:0013895), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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 6 reported patients · Congenital onset
- MicrocephalyHPOHP:0000252
- 2 of 6 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 2 of 6 reported patients
- Short distal phalanx of fingerHPOHP:0009882
- 2 of 6 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 6 reported patients
- Absent toeHPOHP:0010760
- 1 of 6 reported patients
- Delayed gross motor developmentHPO
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.
- RBPJHGNC:5724
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: Adams-Oliver syndrome 3
- Also called
- Adams-Oliver syndrome caused by mutation in RBPJAdams-Oliver syndrome type 3RBPJ Adams-Oliver syndrome