Disease #04216

Official abbreviation GSD
Name storage disease, glycogen (GSD)
OMIM ID -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00033808 - - - F no United Kingdom (Great Britain) - - 0 - - GSD - PHKB, PYGM PHKB, PYGM 2 1 Shu Yau
00033817 - - - F - Australia - - 0 - - GSD - PHKB PHKB 1 1 Shu Yau
00183081 PatB Labrijn-Marks et al, submitted - - yes Netherlands - - 0 - - GSD - GAA GAA 2 1 Marianne Hoogeveen-Westerveld
00183082 PatC Labrijn-Marks et al, submitted - - - Netherlands - <00y02m14d 0 - - GSD 10w-died with cardiorespiratory arrest GAA GAA 2 1 Marianne Hoogeveen-Westerveld
00183083 PatD Labrijn-Marks et al, submitted - - - Netherlands - - 0 - - GSD CRIM positive GAA GAA 2 1 Marianne Hoogeveen-Westerveld
00183084 PatE Labrijn-Marks et al, submitted - - - Netherlands - - 0 - - GSD biventricular cardiac hypertrophy GAA GAA 2 1 Marianne Hoogeveen-Westerveld
00207366 - PubMed: Grzesiuk 2010 family, 7 affected (F, 2M) F;M - Brazil - - 0 database Erasmus MC - GSD 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) +/+/- GAA - 0 3 Pim Pijnappel
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