Phenotypes for disease #04216 (GSD (storage disease, glycogen (GSD)))

132 entries on 2 pages. Showing entries 1 - 100.
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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
0000231532 68y-deceased; limb-girdle weakness; 54y-non-invasive ventilation; 68y-invasiveventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 68y 65y 42y limb-girdle weakness - Johan den Dunnen 00305685
0000231533 ambulatory; respiratory weakness; 58y-non-invasive ventilation; CT brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 66y 60y 58y respiratory weakness - Johan den Dunnen 00305686
0000231534 ambulatory; limb-girdle weakness; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 23y 14y 14y limb-girdle weakness - Johan den Dunnen 00305687
0000231535 ambulatory; limb-girdle weakness, fatigue; 39y-non-invasive ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 56y 44y 15y limb-girdle weakness, fatigue - Johan den Dunnen 00305688
0000231536 ambulatory; limb-girdle weakness, fatigue; 53y-non-invasive ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 55y 52y 26y limb-girdle weakness, fatigue - Johan den Dunnen 00305689
0000231537 ambulatory; limb-girdle weakness; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 65y 58y 13y limb-girdle weakness - Johan den Dunnen 00305690
0000231538 ambulatory; limb-girdle weakness, fatigue; 32y-non-invasive ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 44y 32y 14y limb-girdle weakness, fatigue - Johan den Dunnen 00305691
0000231539 deceased; respiratory weakness; 42y-invasive ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive - 41y 10y respiratory weakness - Johan den Dunnen 00305692
0000231540 wheelchair-bound; limb-girdle weakness; no ventilation; MRI brain atrophy, mild microvascular white matter lesions late-onset Pompe disease GSD2 Familial, autosomal recessive 75y 61y 49y limb-girdle weakness - Johan den Dunnen 00305693
0000231541 deceased; respiratory weakness; 75y-non-invasive ventilation; late-onset Pompe disease GSD2 Unknown - - 68y respiratory weakness - Johan den Dunnen 00305694
0000231542 ambulatory; limb-girdle weakness; 37y-non-invasive ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 45y 33y 11y limb-girdle weakness - Johan den Dunnen 00305695
0000231543 ambulatory; limb-girdle weakness; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 27y 20y 7y limb-girdle weakness - Johan den Dunnen 00305696
0000231544 ambulatory; limb-girdle weakness; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 45y - 36y limb-girdle weakness - Johan den Dunnen 00305697
0000231545 62y-deceased; respiratory weakness; 58y-non-invasive ventilation; late-onset Pompe disease GSD2 Unknown 62y 60y - respiratory weakness - Johan den Dunnen 00305698
0000231546 ambulatory; respiratory weakness; 36y-non-invasive ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 55y 40y 30y respiratory weakness - Johan den Dunnen 00305699
0000231547 ambulatory; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 59y 44y 52y - - Johan den Dunnen 00305700
0000231548 ambulatory; respiratory weakness, limb-girdle weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 64y 53y 51y respiratory weakness, limb-girdle weakness - Johan den Dunnen 00305701
0000231549 ambulatory; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 27y 14y 11y - - Johan den Dunnen 00305702
0000231550 ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 48y 37y 35y respiratory weakness, limb-girdle weakness, axial weakness - Johan den Dunnen 00305703
0000231551 ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain moderate ventriculomegaly late-onset Pompe disease GSD2 Familial, autosomal recessive 50y 40y 31y respiratory weakness, limb-girdle weakness, axial weakness - Johan den Dunnen 00305704
0000231552 ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 50y 39y 20y respiratory weakness, limb-girdle weakness, axial weakness - Johan den Dunnen 00305705
0000231553 ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 47y 36y 37y respiratory weakness, limb-girdle weakness, axial weakness - Johan den Dunnen 00305706
0000231554 ambulatory; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 34y 22y 15y - - Johan den Dunnen 00305707
0000231555 ambulatory; no ventilation; MRI brain aspecific T2 hyperintensity in right thalamus late-onset Pompe disease GSD2 Familial, autosomal recessive 15y 3y 7m - - Johan den Dunnen 00305708
0000231556 ambulatory; limb-girdle weakness, respiratory weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 41y 29y 17y limb-girdle weakness, respiratory weakness - Johan den Dunnen 00305709
0000231557 ambulatory; respiratory weakness, limb-girdle weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 10y 4y 2y6m respiratory weakness, limb-girdle weakness - Johan den Dunnen 00305710
0000231558 ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 59y 53y 43y respiratory weakness, limb-girdle weakness, axial weakness - Johan den Dunnen 00305711
0000231559 ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 35y 31y 28y respiratory weakness, limb-girdle weakness, axial weakness - Johan den Dunnen 00305712
0000231560 ambulatory; limb-girdle weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 23y 4y 9m limb-girdle weakness - Johan den Dunnen 00305713
0000231561 ambulatory; respiratory weakness; 40y-non-invasive ventilation; MRI brain vertebrobasilar dolichoextasia, hypointensities in basal ganglia (SWI) late-onset Pompe disease GSD2 Familial, autosomal recessive 63y 51y 39y respiratory weakness - Johan den Dunnen 00305714
0000231562 ambulatory; limb-girdle weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 50y 38y 35y limb-girdle weakness - Johan den Dunnen 00305715
0000231563 ambulatory; limb-girdle weakness; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 73y 61y 28y limb-girdle weakness - Johan den Dunnen 00305716
0000231564 ambulatory; limb-girdle weakness; no ventilation; CT brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 63y 52y 44y limb-girdle weakness - Johan den Dunnen 00305717
0000231565 ambulatory; limb-girdle weakness, ptosis left side; 60y-non-invasive ventilation; MRI brain aneurysm right vertebral artery late-onset Pompe disease GSD2 Familial, autosomal recessive 68y 66y 45y limb-girdle weakness, ptosis left side - Johan den Dunnen 00305718
0000231566 78y-deceased; limb-girdle weakness, axial weakness; 72y-non-invasive ventilation; CT brain vascular leukoencephalopathy late-onset Pompe disease GSD2 Familial, autosomal recessive 78y 72y 44y limb-girdle weakness, axial weakness - Johan den Dunnen 00305719
0000231567 ambulatory; limb-girdle weakness; no ventilation; MRI brain multiple small aneurysms (right internal carotid artery, left anterior cerebral artery) late-onset Pompe disease GSD2 Familial, autosomal recessive 47y 36y 25y limb-girdle weakness - Johan den Dunnen 00305720
0000231568 ambulatory; limb-girdle weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 45y 35y 17y limb-girdle weakness - Johan den Dunnen 00305721
0000231569 ambulatory; hyperCKemia, fatigue; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 41y 31y 27y hyperCKemia, fatigue - Johan den Dunnen 00305722
0000231570 ambulatory; limb-girdle weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 49y 41y 42y limb-girdle weakness - Johan den Dunnen 00305723
0000231571 ambulatory; limb-girdle weakness; no ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 35y 32y 18y limb-girdle weakness - Johan den Dunnen 00305724
0000231572 ambulatory; limb-girdle weakness; 53y-non-invasive ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 55y 53y 42y limb-girdle weakness - Johan den Dunnen 00305725
0000231573 ambulatory; limb-girdle weakness; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 59y 53y 51y limb-girdle weakness - Johan den Dunnen 00305726
0000231574 ambulatory; limb-girdle weakness; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 63y 54y 25y limb-girdle weakness - Johan den Dunnen 00305727
0000231575 ambulatory; limb-girdle weakness; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 62y 51y 44y limb-girdle weakness - Johan den Dunnen 00305728
0000231576 65y-deceased; limb-girdle weakness, respiratory weakness; 55y-non-invasive ventilation; CT brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 65y 57y 44y limb-girdle weakness, respiratory weakness - Johan den Dunnen 00305729
0000231577 ambulatory; limb-girdle weakness; 54y-non-invasive ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 58y 51y 27y limb-girdle weakness - Johan den Dunnen 00305730
0000231578 ambulatory; limb-girdle weakness; 41y-non-invasive ventilation; CT brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 53y 42y 29y limb-girdle weakness - Johan den Dunnen 00305731
0000231579 ambulatory; limb-girdle weakness; 38y-non-invasive ventilation; MRI brain normal late-onset Pompe disease GSD2 Familial, autosomal recessive 46y 34y 9y limb-girdle weakness - Johan den Dunnen 00305732
0000231580 ambulatory; respiratory weakness; no ventilation; MRI brain vertebrobasilar dolichoextasia late-onset Pompe disease GSD2 Familial, autosomal recessive 45y 43y 20y respiratory weakness - Johan den Dunnen 00305733
0000231581 ambulatory; limb-girdle weakness; 37y-non-invasive ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 40y 38y 36y limb-girdle weakness - Johan den Dunnen 00305734
0000231582 ambulatory; limb-girdle weakness, fatigue; no ventilation; late-onset Pompe disease GSD2 Familial, autosomal recessive 21y 21y 18y limb-girdle weakness, fatigue - Johan den Dunnen 00305735
0000231583 deceased; 49y-non-invasive ventilation; late-onset Pompe disease GSD2 Unknown - - - - - Johan den Dunnen 00305736
0000247218 see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia; glycogen storage disease - Familial, autosomal recessive 2y - - - - LOVD 00329014
0000247219 see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia (8h fasting); glycogen storage in liver glycogen storage disease - Familial, autosomal recessive 2y - - - - LOVD 00329015
0000247220 see paper; ..., hepatomegaly; no growth failure; no hypoglycaemia, no lactataemia; glycogen storage in liver glycogen storage disease - Familial, autosomal recessive 1y - - - - LOVD 00329016
0000247221 see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia; glycogen storage in liver glycogen storage disease - Familial, autosomal recessive 1y10m - - - - LOVD 00329017
0000247222 see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactate normal; glycogen storage in liver glycogen storage disease - Familial, autosomal recessive 2y - - - - LOVD 00329018
0000247223 see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia; glycogen storage disease - Familial, autosomal recessive 1y4m - - - - LOVD 00329019
0000247224 see paper; ..., hepatomegaly; no growth failure, mild hypotonia, deleyed motor development; no hypoglycaemia, lactataemia; glycogen storage disease - Familial, autosomal recessive 5m - - - - LOVD 00329020
0000247225 see paper; ..., hepatomegaly; growth failure, weakness, cramps, splenomegaly; hypoglycaemia, lactataemia; glycogen storage disease - Familial, autosomal recessive 1y2m - - - - LOVD 00329021
0000247226 see paper; ..., hepatomegaly; growth failure, weakness, cramps; hypoglycaemia, lactataemia; glycogen storage disease - Familial, autosomal recessive 2y3m - - - - LOVD 00329022
0000247227 see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver glycogen storage disease - Familial, autosomal recessive 2y1m - - - - LOVD 00329023
0000247228 see paper; ..., hepatomegaly; no growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver glycogen storage disease - Familial, autosomal recessive 3y6m - - - - LOVD 00329024
0000247229 see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver glycogen storage disease - Familial, autosomal recessive 2y3m - - - - LOVD 00329025
0000247230 see paper; ..., hepatomegaly; growth failure, hypotonia, retarded bone age; no hypoglycaemia, no lactataemia; glycogen storage in liver glycogen storage disease - Familial, autosomal recessive 35d - - - - LOVD 00329026
0000247231 - glycogen storage disease - Familial, autosomal recessive - - - - - LOVD 00329034
0000247232 - glycogen storage disease - Familial, autosomal recessive - - - - - LOVD 00329035
0000247233 - glycogen storage disease - Familial, autosomal recessive - - - - - LOVD 00329036
0000247234 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329037
0000247235 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329038
0000247236 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329039
0000247237 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329040
0000247238 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329041
0000247239 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329042
0000247240 see paper; ... glycogen storage disease - Familial, autosomal recessive - - - - - LOVD 00329043
0000247241 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329044
0000247242 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329045
0000247243 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329046
0000247244 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329047
0000247245 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329048
0000247246 see paper; ..., XLG1 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329049
0000247247 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329050
0000247248 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329051
0000247249 , glycogen storage disease - Familial, autosomal recessive - - - - - LOVD 00329052
0000247250 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329053
0000247251 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329054
0000247252 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329055
0000247253 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329056
0000247254 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329057
0000247255 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329058
0000247256 see paper; ..., XLG2 profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329059
0000247257 see paper; ..., XLG? profile glycogen storage disease - Familial, X-linked recessive - - - - - LOVD 00329060
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