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               Disease      |  
 
               Phenotype details      |  Genes screened
 
 |  Variants in genes
 
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               Variants      |  
 
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          | 00033808 | - | - | - | F | no | United Kingdom (Great Britain) | - | - | - | - | - | GSD | - | PHKB, PYGM | PHKB, PYGM | 2 | 1 | Shu Yau | 
        
          | 00033817 | - | - | - | F | - | Australia | - | - | - | - | - | GSD | - | PHKB | PHKB | 1 | 1 | Shu Yau | 
        
          | 00183081 | PatB | Labrijn-Marks et al, submitted | - | - | yes | Netherlands | - | - | - | - | - | GSD | - | GAA | GAA | 2 | 1 | Marianne Hoogeveen-Westerveld | 
        
          | 00183082 | PatC | Labrijn-Marks et al, submitted | - | - | - | Netherlands | - | <00y02m14d | - | - | - | GSD | 10w-died with cardiorespiratory arrest | GAA | GAA | 2 | 1 | Marianne Hoogeveen-Westerveld | 
        
          | 00183083 | PatD | Labrijn-Marks et al, submitted | - | - | - | Netherlands | - | - | - | - | - | GSD | CRIM positive | GAA | GAA | 2 | 1 | Marianne Hoogeveen-Westerveld | 
        
          | 00183084 | PatE | Labrijn-Marks et al, submitted | - | - | - | Netherlands | - | - | - | - | - | GSD | biventricular cardiac hypertrophy | GAA | GAA | 2 | 1 | Marianne Hoogeveen-Westerveld | 
        
          | 00207366 | - | PubMed: Grzesiuk 2010 | family, 7 affected (F, 2M) | F;M | - | Brazil | - | - | - | 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 | - | - | 3 | Pim Pijnappel | 
        
          | 00246862 | - | manuscript submitted, 2019 | - | - | - | - | - | - | - | - | - | GSD | - | GAA | GAA | 1 | 1 | Roberto Araujo | 
        
          | 00265782 | Fam | Echaniz-Laguna WMS2019, absO5 | 4-generation family, 14 affected | F;M | - | France | - | - | - | - | - | GSD | adult-onset proximal muscle weakness, normal metabolic response aerobic/anaerobic exercise; muscle biopsy glycogen accumulation | PYGM | PYGM | 1 | 14 | Johan den Dunnen | 
        
          | 00305685 | Pat1 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | 68y | - | - | 2y enzyme replacement therapy | GSD | 68y-deceased; limb-girdle weakness; 54y-non-invasive ventilation; 68y-invasiveventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305686 | Pat2 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 4y enzyme replacement therapy | GSD | ambulatory; respiratory weakness; 58y-non-invasive ventilation; CT brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305687 | Pat3 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 8y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305688 | Pat4 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 13y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness, fatigue; 39y-non-invasive ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305689 | Pat5 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 2y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness, fatigue; 53y-non-invasive ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305690 | Pat6 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 7y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305691 | Pat7 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 4y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness, fatigue; 32y-non-invasive ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305692 | Pat8 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | ? | - | - | 3y enzyme replacement therapy | GSD | deceased; respiratory weakness; 42y-invasive ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305693 | Pat9 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 13y enzyme replacement therapy | GSD | wheelchair-bound; limb-girdle weakness; no ventilation; MRI brain atrophy, mild microvascular white matter lesions | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305694 | Pat10 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | ? | - | - | 8y enzyme replacement therapy | GSD | deceased; respiratory weakness; 75y-non-invasive ventilation; | GAA | GAA | 1 | 1 | Johan den Dunnen | 
        
          | 00305695 | Pat11 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 13y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; 37y-non-invasive ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305696 | Pat12 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 14y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305697 | Pat13 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 2y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305698 | Pat14 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | 62y | - | - | 2y enzyme replacement therapy | GSD | 62y-deceased; respiratory weakness; 58y-non-invasive ventilation; | GAA | GAA | 1 | 1 | Johan den Dunnen | 
        
          | 00305699 | Pat15 | PubMed: Vanherpe 2020 | family, 2 affected, Pat1 | M | - | Belgium | - | - | - | - | 13y enzyme replacement therapy | GSD | ambulatory; respiratory weakness; 36y-non-invasive ventilation; | GAA | GAA | 2 | 2 | Johan den Dunnen | 
        
          | 00305700 | Pat16 | PubMed: Vanherpe 2020 | Pat2 | M | - | Belgium | - | - | - | - | 11y enzyme replacement therapy | GSD | ambulatory; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305701 | Pat17 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 9y enzyme replacement therapy | GSD | ambulatory; respiratory weakness, limb-girdle weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305702 | Pat18 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 12y enzyme replacement therapy | GSD | ambulatory; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305703 | Pat19 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 10y enzyme replacement therapy | GSD | ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305704 | Pat20 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 9y enzyme replacement therapy | GSD | ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain moderate ventriculomegaly | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305705 | Pat21 | PubMed: Vanherpe 2020 | family, 2 affected, Pat1 | M | - | Belgium | - | - | - | - | 10y enzyme replacement therapy | GSD | ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 2 | Johan den Dunnen | 
        
          | 00305706 | Pat22 | PubMed: Vanherpe 2020 | Pat2 | M | - | Belgium | - | - | - | - | 9y enzyme replacement therapy | GSD | ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305707 | Pat23 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 7y enzyme replacement therapy | GSD | ambulatory; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305708 | Pat24 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 12y enzyme replacement therapy | GSD | ambulatory; no ventilation; MRI brain aspecific T2 hyperintensity in right thalamus | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305709 | Pat25 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 8y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness, respiratory weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305710 | Pat26 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 6y enzyme replacement therapy | GSD | ambulatory; respiratory weakness, limb-girdle weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305711 | Pat27 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 5y enzyme replacement therapy | GSD | ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305712 | Pat28 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 3y enzyme replacement therapy | GSD | ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305713 | Pat29 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 14y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305714 | Pat30 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 13y enzyme replacement therapy | GSD | ambulatory; respiratory weakness; 40y-non-invasive ventilation; MRI brain vertebrobasilar dolichoextasia, hypointensities in basal ganglia (SWI) | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305715 | Pat31 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 13y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305716 | Pat32 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 13y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; | GAA | GAA | 3 | 1 | Johan den Dunnen | 
        
          | 00305717 | Pat33 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 11y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; CT brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305718 | Pat34 | PubMed: Vanherpe 2020 | family, 2 affected, Pat1 | M | - | Belgium | - | - | - | - | 12y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness, ptosis left side; 60y-non-invasive ventilation; MRI brain aneurysm right vertebral artery | GAA | GAA | 2 | 2 | Johan den Dunnen | 
        
          | 00305719 | Pat35 | PubMed: Vanherpe 2020 | Pat2 | F | - | Belgium | - | 78y | - | - | - | GSD | 78y-deceased; limb-girdle weakness, axial weakness; 72y-non-invasive ventilation; CT brain vascular leukoencephalopathy | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305720 | Pat36 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 11y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; MRI brain multiple small aneurysms (right internal carotid artery, left anterior cerebral artery) | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305721 | Pat37 | PubMed: Vanherpe 2020 | family, 2 affected, Pat1 | M | - | Belgium | - | - | - | - | 10y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 2 | Johan den Dunnen | 
        
          | 00305722 | Pat38 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 9y enzyme replacement therapy | GSD | ambulatory; hyperCKemia, fatigue; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305723 | Pat39 | PubMed: Vanherpe 2020 | Pat2 | F | - | Belgium | - | - | - | - | 7y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305724 | Pat40 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 3y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305725 | Pat41 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 2y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; 53y-non-invasive ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305726 | Pat42 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 5y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305727 | Pat43 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 11y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305728 | Pat44 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 7y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; no ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305729 | Pat45 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | 65y | - | - | 7y enzyme replacement therapy | GSD | 65y-deceased; limb-girdle weakness, respiratory weakness; 55y-non-invasive ventilation; CT brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305730 | Pat46 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 8y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; 54y-non-invasive ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305731 | Pat47 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 11y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; 41y-non-invasive ventilation; CT brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305732 | Pat48 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 14y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; 38y-non-invasive ventilation; MRI brain normal | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305733 | Pat49 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 2y enzyme replacement therapy | GSD | ambulatory; respiratory weakness; no ventilation; MRI brain vertebrobasilar dolichoextasia | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305734 | Pat50 | PubMed: Vanherpe 2020 | - | M | - | Belgium | - | - | - | - | 3y enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness; 37y-non-invasive ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305735 | Pat51 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | - | - | - | 4m enzyme replacement therapy | GSD | ambulatory; limb-girdle weakness, fatigue; no ventilation; | GAA | GAA | 2 | 1 | Johan den Dunnen | 
        
          | 00305736 | Pat52 | PubMed: Vanherpe 2020 | - | F | - | Belgium | - | ? | - | - | enzyme replacement therapy until death | GSD | deceased; 49y-non-invasive ventilation; | GAA | - | - | 1 | Johan den Dunnen | 
        
          | 00329014 | Pat1 | PubMed: Burwinkel 1998 | - | M | yes | Israel | Arab, Beduin | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia; | PYGL | PYGL | 1 | 1 | LOVD | 
        
          | 00329015 | Pat2 | PubMed: Burwinkel 1998 | - | M | no | Suriname | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia (8h fasting); glycogen storage in liver | PYGL | PYGL | 3 | 1 | LOVD | 
        
          | 00329016 | Pat3 | PubMed: Burwinkel 1998 | - | F | yes | Turkey | Hindustani | - | - | - | - | GSD | see paper; ..., hepatomegaly; no growth failure; no hypoglycaemia, no lactataemia; glycogen storage in liver | PYGL | PYGL | 1 | 1 | LOVD | 
        
          | 00329017 | Pat1 | PubMed: Chang 1998 | 9-generation family, 5 affected (3F, 2M) | F;M | yes | United States | Mennonite | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia; glycogen storage in liver | PYGL | PYGL | 1 | 5 | LOVD | 
        
          | 00329018 | Pat1 | PubMed: Tang 2003 | 2-generation family, 1 affected, unaffected heterozygous carrier parents | M | yes | China | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactate normal; glycogen storage in liver | PYGL | PYGL | 1 | 1 | LOVD | 
        
          | 00329019 | Pat1 | PubMed: Beauchamp 2007 | - | F | yes | United Kingdom (Great Britain) | Asia | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia; | PYGL | PYGL | 1 | 1 | LOVD | 
        
          | 00329020 | Pat2 | PubMed: Beauchamp 2007 | - | F | no | United Kingdom (Great Britain) | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; no growth failure, mild hypotonia, deleyed motor development; no hypoglycaemia, lactataemia; | PYGL | PYGL | 2 | 1 | LOVD | 
        
          | 00329021 | Pat3 | PubMed: Beauchamp 2007 | 2-generation family, 2 affected sibs (2M), unaffected heterozygous carrier parents | M | no | France | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure, weakness, cramps, splenomegaly; hypoglycaemia, lactataemia; | PYGL | PYGL | 2 | 2 | LOVD | 
        
          | 00329022 | Pat4 | PubMed: Beauchamp 2007 | sib | M | no | France | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure, weakness, cramps; hypoglycaemia, lactataemia; | PYGL | PYGL | 2 | 1 | LOVD | 
        
          | 00329023 | Pat5 | PubMed: Beauchamp 2007 | - | M | no | Poland | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver | PYGL | PYGL | 2 | 1 | LOVD | 
        
          | 00329024 | Pat6 | PubMed: Beauchamp 2007 | - | M | no | Poland | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; no growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver | PYGL | PYGL | 2 | 1 | LOVD | 
        
          | 00329025 | Pat7 | PubMed: Beauchamp 2007 | - | F | no | Poland | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver | PYGL | PYGL | 2 | 1 | LOVD | 
        
          | 00329026 | Pat8 | PubMed: Beauchamp 2007 | - | F | no | Austria | - | - | - | - | - | GSD | see paper; ..., hepatomegaly; growth failure, hypotonia, retarded bone age; no hypoglycaemia, no lactataemia; glycogen storage in liver | PYGL | PYGL | 1 | 1 | LOVD | 
        
          | 00329034 | Pat1 | PubMed: Davit-Spraul 2011 | - | - | - | France | - | - | - | - | - | GSD | - | PYGL | PHKA2, PYGL | 3 | 1 | LOVD | 
        
          | 00329035 | Pat10 | PubMed: Davit-Spraul 2011 | - | - | - | France | - | - | - | - | - | GSD | - | PYGL | PYGL | 2 | 1 | LOVD | 
        
          | 00329036 | Pat11 | PubMed: Davit-Spraul 2011 | - | - | - | France | - | - | - | - | - | GSD | - | PYGL | PYGL | 1 | 1 | LOVD | 
        
          | 00329037 | Pat12 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329038 | Pat13 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329039 | Pat14 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329040 | Pat15 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 2 | 1 | LOVD | 
        
          | 00329041 | Pat16 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 2 | 1 | LOVD | 
        
          | 00329042 | Pat17 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 2 | 1 | LOVD | 
        
          | 00329043 | Pat2 | PubMed: Davit-Spraul 2011 | - | - | - | France | - | - | - | - | - | GSD | see paper; ... | PYGL | PHKA2, PYGL | 2 | 1 | LOVD | 
        
          | 00329044 | Pat20 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329045 | Pat21 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329046 | Pat22 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329047 | Pat23 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329048 | Pat24 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329049 | Pat25 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG1 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329050 | Pat26 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329051 | Pat27 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329052 | Pat3 | PubMed: Davit-Spraul 2011 | - | - | - | France | - | - | - | - | - | GSD | , | PYGL | PYGL | 2 | 1 | LOVD | 
        
          | 00329053 | Pat30 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329054 | Pat31 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329055 | Pat32 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2 | 2 | 1 | LOVD | 
        
          | 00329056 | Pat33 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329057 | Pat34 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2, PYGL | 3 | 1 | LOVD | 
        
          | 00329058 | Pat35 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD | 
        
          | 00329059 | Pat36 | PubMed: Davit-Spraul 2011 | - | M | - | France | - | - | - | - | - | GSD | see paper; ..., XLG2 profile | PHKA2 | PHKA2 | 1 | 1 | LOVD |