Phenotype #0000155137

Individual ID 00207366
Associated disease GSD
Phenotype details age onset 32y/31y/43y ; ventilation support (HP:0004887) +/-/-; respiratory problems (HP:0002093) (3); able to walk (-HP:0002540) (3); abnormality of movement(HP:0100022) +/+/-
Diagnosis/Initial glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSD-2, Adult
Age/Examination 44y-46y
Age/Diagnosis -
Age/Onset 31y-43y
Phenotype/Onset -
Protein -
Owner name Pim Pijnappel