Warburg micro syndrome 1
Findings
No curated finding names Warburg micro syndrome 1 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 RAB3GAP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010822), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Cerebellar hypoplasiaHPOHP:0001321
- 7 of 7 reported patients
- Enlarged sylvian cisternHPOHP:0100952
- 7 of 7 reported patients
- Perisylvian polymicrogyriaHPOHP:0012650
- 7 of 7 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 3 of 7 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 3 of 7 reported patients
- HypertrichosisHPOHP:0000998
- 2 of 7 reported patients
- Low-set earsHPOHP:0000369
Show the remaining 4
- Wide nasal bridgeHPOHP:0000431
- 1 of 7 reported patients
- Deeply set eyeHPOHP:0000490
- MicrophthalmiaHPOHP:0000568
- Thin vermilion borderHPOHP:0000233
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.
- RAB3GAP1HGNC:17063
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: Warburg micro syndrome 1
- Also called
- RAB3GAP1 Warburg micro syndromeWARBM1Warburg micro syndrome caused by mutation in RAB3GAP1Warburg micro syndrome type 1