Kallmann syndrome-heart disease syndrome
Findings
No curated finding names Kallmann syndrome-heart disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
Definition from the Mondo Disease Ontology (MONDO:0016515), read 2026-09-29. CC BY 4.0.
Features
29 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.
- Hypogonadotropic hypogonadismHPOHP:0000044
- Obligate (100% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Total anosmiaHPOHP:0010632
- Very frequent (80% to 99% of cases)
- Anomalous origin of left coronary artery from the pulmonary arteryHPOHP:0011638
- Frequent (30% to 79% of cases)
- Bilateral cryptorchidismHPOHP:0008689
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
Show the remaining 17
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Heart murmurHPOHP:0030148
- Frequent (30% to 79% of cases)
- MicropenisHPOHP:0000054
- Frequent (30% to 79% of cases)
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
- OsteoporosisHPOHP:0000939
- Frequent (30% to 79% of cases)
- Partial anosmiaHPOHP:0010633
- Frequent (30% to 79% of cases)