Case1: infant female

DiseaseAssertion: HCM

FamilyInfo: History of HCM on paternal side including grandmother, two great uncles and great grandfather of proband

CasePresentingHPOs: HP:0200048, HP:0200128

"Cyanotic episodes, Biventricular hypertrophy"

CaseHPOFreeText: persistently cyanotic with oxygen saturation 76 % in room air, supplemental oxygen led to only mild improvement, hypertrophied interventricular septum, severe concentric biventricular hypertrophy, left ventricular (LV) cavity mid-cavitary narrowing

GenotypingMethod: Biomarker testing

Variant: NM_000257.4:c.5254G>A

ClinVar: 181395

CAID: CA015809

gnomAD: not found