Phenotype #0000174960

Individual ID 00234696
Associated disease GSD2
Phenotype details no cardiomyopathy (-HP:0001638); no liver/spleen involvement; no ventilatory support (-HP:0002093); no respiratory problems (-HP:0002795); not wheelchair bound (-HP:0002540); no mobility problem (-HP:0100022); kyphosis/scoliosis (HP:0010674); no ptosis (-HP:0000508); no scapular winging (-HP:0003691); no abnormal cerebral vessels (-HP:0100659)
Diagnosis/Initial glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSD-2: asymptomatic
Age/Examination 68y (68 years)
Age/Diagnosis -
Age/Onset -
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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