Ochoa syndrome
MONDO:0000463Mondo
Findings
No curated finding names Ochoa syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.
Definition from the Mondo Disease Ontology (MONDO:0000463), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Recurrent urinary tract infectionsHPOHP:0000010
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- Urethral obstructionHPOHP:0000796
- Frequent (30% to 79% of cases)
- Urinary incontinenceHPOHP:0000020
- Frequent (30% to 79% of cases)
- Vesicoureteral refluxHPOHP:0000076
- Frequent (30% to 79% of cases)
- Bowel incontinenceHPOHP:0002607
- Occasional (5% to 29% of cases)
- HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
- PolydipsiaHPOHP:0001959
- Occasional (5% to 29% of cases)
- Renal insufficiencyHPOHP:0000083
- Occasional (5% to 29% of cases)
- Neurogenic bladderMondoHP:0000011
Genes
2 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.
Where it sits
- A kind of
- Narrower terms (2)
Other names
4 names
Resolves to: Ochoa syndrome
- Also called
- hydronephrosis-inverted smile syndromeinverted smile-neurogenic bladder syndromepartial facial palsy with urinary abnormalitiesUrofacial Syndrome