Phenotype #0000017775

Individual ID 00020015
Associated disease -
Phenotype details core clinical features: progressive neonatal hypertrophic, cardiomyopathy, lactic acidosis, muscular hypotonia: other features: pulomonary hypertension, persistent ductus arteriosus, dysmorphic features (small chin flat orbital bridges)
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Richard Rodenburg