Phenotypes for disease #04216

8 entries on 1 page. Showing entries 1 - 8.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000027208 - - - Isolated (sporadic) - - - - - Shu Yau 00033808
0000027219 - - - Isolated (sporadic) - - - - - Shu Yau 00033817
0000143837 - glycogen storage disease GSD-2 Familial, autosomal recessive - 03y - - - Marianne Hoogeveen-Westerveld 00183081
0000143838 10w-died with cardiorespiratory arrest glycogen storage disease GSD-2 Familial, autosomal recessive - 00y01m14d - - - Marianne Hoogeveen-Westerveld 00183082
0000143839 CRIM positive glycogen storage disease GSD-2 Familial, autosomal recessive - 01y04m - - - Marianne Hoogeveen-Westerveld 00183083
0000143840 biventricular cardiac hypertrophy glycogen storage disease GSD-2 Familial, autosomal recessive - 00y02m14d - - - Marianne Hoogeveen-Westerveld 00183084
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 00207366
0000203568 adult-onset proximal muscle weakness, normal metabolic response aerobic/anaerobic exercise; muscle biopsy glycogen accumulation - - Familial, autosomal dominant - - - - - Johan den Dunnen 00265782
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