All individuals with variants in gene GP1BB

63 entries on 1 page. Showing entries 1 - 63.
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Age at death     

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Disease     

Phenotype details     

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00016616 - PubMed: Savoia 2014 - - - Tunisia - - 0 - - BSS - 1 2 Anna Savoia
00016618 - PubMed: Savoia 2014 - - - Canada - - 0 - - BSS - 1 1 Anna Savoia
00016619 - PubMed: Savoia 2014 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016620 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016622 - PubMed: Savoia 2014 - - - Turkey - - 0 - - BSS - 1 1 Anna Savoia
00016623 - PubMed: Savoia 2014 - - - Turkey - - 0 - - BSS - 1 1 Anna Savoia
00016626 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 2 Anna Savoia
00016627 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016629 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016631 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016632 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016637 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016638 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016639 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016642 - PubMed: Gonzalez-Manchon 2003 - - - ? (unknown) - - 0 - - BSS - 1 2 Anna Savoia
00016643 - PubMed: Savoia 2014 - - - Lebanon - - 0 - - BSS - 1 2 Anna Savoia
00016644 - PubMed: Savoia 2014 - - - France - - 0 - - BSS - 1 1 Anna Savoia
00016645 - PubMed: Savoia 2014 - - - Spain - - 0 - - BSS - 1 1 Anna Savoia
00016646 - PubMed: Savoia 2014 - - - Mauritania - - 0 - - BSS - 1 1 Anna Savoia
00016647 - PubMed: Savoia 2014 - - - Algeria - - 0 - - BSS - 1 3 Anna Savoia
00016648 - PubMed: Savoia 2014 - - - France - - 0 - - BSS - 2 1 Anna Savoia
00016666 - PubMed: Strassel 2004 - - - Saudi Arabia - - 0 - - BSS - 1 1 Anna Savoia
00016667 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016669 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016670 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016672 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016673 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016675 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016676 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016677 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016678 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 2 Anna Savoia
00016680 - PubMed: Hadjkacem 2010 - - - Tunisia - - 0 - - BSS - 1 1 Anna Savoia
00016682 - PubMed: Hadjkacem 2009,PubMed: Hadjkacem 2010 - - - Tunisia - - 0 - - BSS - 1 1 Anna Savoia
00016718 - PubMed: Strassel 2003 - - - Algeria - - 0 - - BSS - 1 1 Anna Savoia
00016721 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016726 - PubMed: Kunishima 2000 - - - Japan - - 0 - - BSS - 1 1 Anna Savoia
00016727 - PubMed: Kunishima 2002 - - - Japan - - 0 - - BSS - 1 1 Anna Savoia
00016729 - PubMed: Sumitha 2011 - - - India - - 0 - - BSS - 2 1 Anna Savoia
00016731 - PubMed: Strassel 2006 - - - Morocco - - 0 - - BSS - 1 1 Anna Savoia
00016734 - PubMed: Savoia 2011 - - - Italy - - 0 - - BSS - 1 1 Anna Savoia
00016736 - PubMed: Kunishima 2013 - - - Japan - - 0 - - BSS - 2 1 Anna Savoia
00016743 - PubMed: Hadjkacem 2010 - - - Tunisia - - 0 - - BSS - 3 1 Anna Savoia
00016745 - PubMed: Sato 2014 - - - Japan - - 0 - - BSS - 2 1 Anna Savoia
00016747 - PubMed: Kunishima 2013 - - - Japan - - 0 - - BSS - 2 1 Anna Savoia
00016748 - PubMed: Kunishima 1997 - - - Japan - - 0 - - - - 2 1 Anna Savoia
00016777 - PubMed: Kunishima 2006 - - - Japan - - 0 - - BSS - 2 1 Anna Savoia
00016778 - PubMed: Watanable 2003 - - - Japan - - 0 - - BSS - 1 2 Anna Savoia
00016779 - PubMed: Ali 2013 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016780 - PubMed: Ali 2013 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016781 - PubMed: Moran 2000 - - - Ireland - - 0 - - BSS - 1 1 Anna Savoia
00016782 - PubMed: Ali 2014 - - - India - - 0 - - BSS - 1 1 Anna Savoia
00016783 - PubMed: Kurokawa 2001 - - - ? (unknown) - - 0 - - BSS - 1 1 Anna Savoia
00016784 - PubMed: Mahfouz 2012 - - - Syria - - 0 - - BSS - 1 1 Anna Savoia
00016825 - PubMed: Hilmann 2002,PubMed: Nurden 2003 - - - ? (unknown) - - 0 - - BSS - 2 1 Anna Savoia
00016838 - PubMed: Savoia 2014 - - - ? (unknown) - - 0 - - BSS - 2 2 Anna Savoia
00016839 - PubMed: Kenny 1999 - - - ? (unknown) - - 0 - - BSS - 2 1 Anna Savoia
00016840 - PubMed: Tang 2004 - - - ? (unknown) - - 0 - - BSS - 2 1 Anna Savoia
00050438 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - 0 Decipher - ? sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart 1 2 Johan den Dunnen
00050514 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema 1 1 Johan den Dunnen
00050542 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay 1 1 Johan den Dunnen
00050613 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy 1 1 Johan den Dunnen
00208999 21800012-Pat PubMed: Bartsch 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - 0 - - BSS see paper; BSS, cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect, ... 1 1 Johan den Dunnen
00209000 08703016-Pat PubMed: Ludlow 1996 - - - United States - - 0 - - BSS see paper; ... 2 1 Johan den Dunnen
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