Case6: Male, 5 months report, birth onset, Algeria, African

CasePresentingHPOs: HP:0001635, HP:0001639, HP:0008872, HP:0002015, HP:0000961, HP:0003324, HP:0008936, HP:0000158, HP:0001315, HP:0001263, HP:0000467, HP:0002240, HP:0001640, HP:0002878, HP:0011950, HP:0001270, HP:0001290 (Heart failure, Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Swallowing difficulties, Cyanosis, Generalized weakness, Axial hypotonia, Macroglossia, Decreased/absent deep tendon reflexes, Global developmental delay, Neck muscle weakness, Hepatomegaly, Cardiomegaly, Respiratory failure, Bronchiolitis, Motor delay, Generalized hypotonia)

HPOsFreeText: Intercostal and subcostal retraction, cardiothoracic ratio of about 0, 78%, CK, ALT, and AST rates were normal, GAA level is null

CaseAddInfo: Died at 11 months