cardiac valvular dysplasia, X-linked
MONDO:0010753Mondo
Findings
No curated finding names cardiac valvular dysplasia, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
24 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.
- Mitral regurgitationHPOHP:0001653
- 14 of 14 reported patients · Male
- 23 of 30 reported patients · Female
- Very frequent (80% to 99% of cases)
- Aortic regurgitationHPOHP:0001659
- 13 of 14 reported patients · Male
- Frequent (30% to 79% of cases)
- Mitral valve prolapseHPOHP:0001634
- 12 of 14 reported patients · Male
- 4 of 30 reported patients · Female
- Frequent (30% to 79% of cases)
- Pulmonic regurgitationHPOHP:0010444
- Very frequent (80% to 99% of cases)
- Tricuspid regurgitationHPOHP:0005180
- 11 of 14 reported patients · Male
- 9 of 30 reported patients · Female
- Very frequent (80% to 99% of cases)
- Bicuspid aortic valveHPOHP:0001647
- Occasional (5% to 29% of cases)
- Joint hypermobilityHPOHP:0001382
- Occasional (5% to 29% of cases)
- Moderate myopiaHPOHP:0031624
- Occasional (5% to 29% of cases)
- Narrow palateHPOHP:0000189
- Occasional (5% to 29% of cases)
- Pes planusHPOHP:0001763
- Occasional (5% to 29% of cases)
- Bilateral ptosisHPOHP:0001488
- Very rare (1% to 4% of cases)
- DyspneaHPOHP:0002094
- Very rare (1% to 4% of cases)
Show the remaining 12
- Generalized hypotoniaHPOHP:0001290
- Very rare (1% to 4% of cases)
- Hyperextensible skinHPOHP:0000974
- Very rare (1% to 4% of cases)
- HypertelorismHPOHP:0000316
- Very rare (1% to 4% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Very rare (1% to 4% of cases)
- Long philtrumHPOHP:0000343
- Very rare (1% to 4% of cases)
- MicrognathiaHPOHP:0000347
- Very rare (1% to 4% 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.
- FLNAHGNC:3754
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2019
- Moderate · Ambry Genetics · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
5 names
Resolves to: cardiac valvular dysplasia, X-linked
- Also called
- congenital valvular dysplasiaCVD1myxomatous valvular dystrophy, X-linkedvalvular heart disease, congenitalXMVD