
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
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 |