Phenotype #0000175414

Individual ID 00235150
Associated disease GSD2
Phenotype details cardiomyopathy (HP:0001638); no ventilatory support (-HP:0002093); respiratory problems (HP:0002795); no ptosis (-HP:0000508)
Diagnosis/Initial glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSD-2: classic infantile onset
Age/Examination 48d
Age/Diagnosis -
Age/Onset 21d
Phenotype/Onset -
Protein -
Owner name Pim Pijnappel
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-05-10 13:10:57 +02:00 (CEST)
Date last edited N/A

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