Prieto syndrome
Findings
No curated finding names Prieto syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.
Definition from the Mondo Disease Ontology (MONDO:0010667), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
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.
- Abnormal fundus morphologyHPOHP:0001098
- Frequent (30% to 79% of cases)
- Abnormal number of incisorsHPOHP:0011064
- Frequent (30% to 79% of cases)
- Bilateral talipes equinovarusHPOHP:0001776
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- Frequent (30% to 79% of cases)
- Coxa valgaHPOHP:0002673
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- EpicanthusHPO
Show the remaining 13
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- OsteoporosisHPOHP:0000939
- Frequent (30% to 79% of cases)
- Patellar subluxationHPOHP:0010499
- Frequent (30% to 79% of cases)
- Prominent noseHPOHP:0000448
- Frequent (30% to 79% of cases)
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.
- WNK3HGNC:14543
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · G2P · X-linked · 2022
Where it sits
Other names
3 names
Resolves to: Prieto syndrome
- Also called
- Prieto syndrome, X-linked recessivePrieto-Badia-Mulas syndromeX-linked intellectual disability-dysmorphism-cerebral atrophy syndrome