Case1: 6 year old, female

DiseaseAssertion: Restrictive cardiomyopathy

FamilyInfo:Both parents were heterozygous carriers, supporting an autosomal recessive inheritance pattern, younger brother showed no abnormalities or signs of the same illness

ParentalTesting: Sanger Sequencing

CasePresentingHPOs:HP:0002094, HP:0012378

CaseHPOFreeText: well below normal weight and height range for patients age, preserved systolic function and diastolic dysfunction, revealed preserved left ventricular systolic function with an ejection fraction, impaired diastolic function, enlarged atrium, wall thickening, impaired ventricular filling

CaseNotHPOs: NR

CaseNotHPOFreeText: comprehensive initial workup, including blood tests and urinalysis, revealed no additional abnormalities

CasePreviousTesting: Echocardiogram, blood tests, urinalysis

Genotyping Method: Whole-exome sequencing

FunctionalAnalysis: NR

Variant: TNNI3 c.406 C > T:p.R136

ClinVar: 488853

gnomAD: not found