Warburg micro syndrome 3
Findings
No curated finding names Warburg micro syndrome 3 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 RAB18 gene.
Definition from the Mondo Disease Ontology (MONDO:0013638), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
25 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.
- Axial hypotoniaHPOHP:0008936
- 12 of 12 reported patients
- CataractHPOHP:0000518
- 12 of 12 reported patients · Congenital onset
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Inability to walkHPOHP:0002540
- 11 of 11 reported patients
- MicrocorneaHPOHP:0000482
- 12 of 12 reported patients
- MicrophthalmiaHPOHP:0000568
- 12 of 12 reported patients
- MiosisHPO
Show the remaining 13
- PolymicrogyriaHPOHP:0002126
- 4 of 7 reported patients
- Lower limb spasticityHPOHP:0002061
- 6 of 12 reported patients
- MicropenisHPOHP:0000054
- 2 of 4 reported patients
- VentriculomegalyHPOHP:0002119
- 3 of 7 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 12 reported patients
- Absent speechHPOHP:0001344
- 2 of 12 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.
- RAB18HGNC:14244
- Definitive · G2P · Autosomal recessive · 2019
- 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 3
- Also called
- micro syndrome 3RAB18 Warburg micro syndromeWARBM3Warburg micro syndrome caused by mutation in RAB18Warburg micro syndrome type 3