Phenotype #0000155151

Individual ID 00000032
Associated disease GSD
Phenotype details cardiomyopathy (HP:0001638); respiratory problems (HP:0002093)
Diagnosis/Initial glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSD-2, Classic infantile
Age/Examination 9m
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset -
Protein -
Owner name Pim Pijnappel