Warburg micro syndrome 4
Findings
No curated finding names Warburg micro syndrome 4 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 TBC1D20 gene.
Definition from the Mondo Disease Ontology (MONDO:0014296), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
40 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.
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Developmental cataractHPOHP:0000519
- 7 of 7 reported patients · Congenital onset
- GlaucomaHPOHP:0000501
- 6 of 6 reported patients
- Inability to walkHPOHP:0002540
- 7 of 7 reported patients
- MicropenisHPO
Show the remaining 28
- MicrophthalmiaHPOHP:0000568
- 3 of 4 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 5 of 7 reported patients
- Sleep disturbanceHPOHP:0002360
- 5 of 7 reported patients
- Absent speechHPOHP:0001344
- 4 of 7 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 4 of 7 reported patients
- Deeply set eyeHPOHP:0000490
- 4 of 7 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.
- TBC1D20HGNC:16133
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: Warburg micro syndrome 4
- Also called
- TBC1D20 Warburg micro syndromeWARBM4Warburg micro syndrome caused by mutation in TBC1D20Warburg micro syndrome type 4