Warburg micro syndrome 2
Findings
No curated finding names Warburg micro syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013641), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
17 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Asymmetry of the earsHPOHP:0010722
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient · Congenital onset
- Clinodactyly of the 4th toeHPOHP:0011918
- 1 of 1 reported patient
- Clinodactyly of the 5th toeHPOHP:0001864
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
Show the remaining 5
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
- PolymicrogyriaHPOHP:0002126
- 1 of 1 reported patient
- Prominent nasal bridgeHPOHP:0000426
- 1 of 1 reported patient
- Short noseHPOHP:0003196
- 1 of 1 reported patient
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.
- RAB3GAP2HGNC:17168
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Warburg micro syndrome 2
- Also called
- micro syndrome 2RAB3GAP2 Warburg micro syndromeWARBM2Warburg micro syndrome caused by mutation in RAB3GAP2Warburg micro syndrome type 2