hypoplastic left heart syndrome 2
MONDO:0013752Mondo
Findings
No curated finding names hypoplastic left heart syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.
Definition from the Mondo Disease Ontology (MONDO:0013752), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
1 feature
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.
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 1 reported patient
Where it sits
- A kind of
Other names
3 names
Resolves to: hypoplastic left heart syndrome 2
- Also called
- hypoplastic left heart syndrome caused by mutation in NKX2-5hypoplastic left heart syndrome type 2NKX2-5 hypoplastic left heart syndrome