Warburg micro syndrome
Findings
No curated finding names Warburg micro syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.
Definition from the Mondo Disease Ontology (MONDO:0016649), read 2026-09-29. CC BY 4.0.
Features
42 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.
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Cerebral visual impairmentHPOHP:0100704
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- LissencephalyHPOHP:0001339
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
Show the remaining 30
- MicrocorneaHPOHP:0000482
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- PachygyriaHPOHP:0001302
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
Genes
4 genes
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 · ClinGen · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- RAB3GAP2HGNC:17168
- Definitive · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- RAB18HGNC:14244
- Moderate · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- TBC1D20HGNC:16133
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Warburg micro syndrome
- Also called
- micro syndromeWARBM