Individual #00207366

ID_report -
Reference PubMed: Grzesiuk 2010
Remarks family, 7 affected (F, 2M)
Gender F;M
Consanguinity -
Country Brazil
Population -
Age/Death -
VIP 0
Data_av database Erasmus MC
Treatment -
Panel size 3
Diseases GSD
Owner name Pim Pijnappel


Phenotypes

storage disease, glycogen (GSD) (GSD)   Add phenotype for this disease

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Owner     
0000155137 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) +/+/- glycogen storage disease GSD-2, Adult Familial, autosomal recessive 44y-46y - 31y-43y - - Pim Pijnappel



Screenings


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Owner     
0000208402 DNA SEQ - - GAA Not yet submitted Pim Pijnappel



Variants

Stop! No entries found!