Nathalie syndrome
MONDO:0009721Mondo
Findings
No curated finding names Nathalie syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
Definition from the Mondo Disease Ontology (MONDO:0009721), read 2026-09-29. CC BY 4.0.
Features
4 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.
- ArrhythmiaHPOHP:0011675
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: Nathalie syndrome
- Also called
- deafness-cataract-skeletal anomalies syndromedeafness-cataracts-skeletal anomalies syndromesensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome