immunodeficiency 93 and hypertrophic cardiomyopathy
MONDO:0030528Mondo
Findings
No curated finding names immunodeficiency 93 and hypertrophic cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
19 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.
- Absent circulating B cellsHPOHP:0030252
- 3 of 3 reported patients
- AgammaglobulinemiaHPOHP:0004432
- 3 of 3 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 3 of 3 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 3 of 3 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 6 of 6 reported patients
- Appendicular hypotoniaHPOHP:0012389
- 2 of 3 reported patients
- Broad-based gaitHPOHP:0002136
- 2 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 3 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 3 reported patients
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 2 of 3 reported patients
- Decreased total B cell countHPOHP:0010976
- 2 of 3 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 2 of 3 reported patients
Show the remaining 7
- Wolff-Parkinson-White syndromeHPOHP:0001716
- 2 of 3 reported patients
- Bronchial wall thickeningHPOHP:0033542
- 1 of 3 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 3 reported patients
- Crohn's diseaseHPOHP:0100280
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- Right ventricular dilatationHPOHP:0005133
- 1 of 3 reported patients
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.
- FNIP1HGNC:29418
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 93 and hypertrophic cardiomyopathy
- Also called
- IMD93immunodeficiency and hypertrophic cardiomyopathy