Adams-Oliver syndrome 4
MONDO:0014124Mondo
Findings
No curated finding names Adams-Oliver syndrome 4 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 EOGT gene.
Definition from the Mondo Disease Ontology (MONDO:0014124), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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
- 5 of 5 reported patients
- Aplasia of the distal phalanges of the toesHPOHP:0010645
- 2 of 5 reported patients
- Hypoplastic toenailsHPOHP:0001800
- 2 of 5 reported patients
- Toenail dysplasiaHPOHP:0100797
- 2 of 5 reported patients
- Umbilical herniaHPOHP:0001537
- 2 of 5 reported patients
- Absent middle phalanx of the 3rd toeHPOHP:0100381
- 1 of 5 reported patients
- Aplasia of the middle phalanx of the 4th toeHPO
Show the remaining 1
- MicrophthalmiaHPOHP:0000568
- 0 of 5 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.
- EOGTHGNC:28526
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: Adams-Oliver syndrome 4
- Also called
- Adams-Oliver syndrome caused by mutation in EOGTAdams-Oliver syndrome type 4EOGT Adams-Oliver syndrome