Disease #02093 (GT2;BDPLT23 (thrombasthenia, Glanzmann, type 2), OMIM:619267)

Official abbreviation	GT2;BDPLT23
Name	thrombasthenia, Glanzmann, type 2
OMIM ID	619267
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	52
Phenotype entries for this disease	52
Associated with 1 gene	ITGB3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2025-12-12 10:01:24 +01:00 (CET)

Individuals

Legend

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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52 entries on 1 page. Showing entries 1 - 52.

Legend

How to query

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
00451682	Pat1	PubMed: Li 2024, Journal: Li 2024	older brother	F	no	China	Asian	05y	-	-	-	GT2;BDPLT23	see paper; ..., died 5y-oral cavity/nasal hemorrhage	ITGB3	ITGB3	1	1	Zhenjiang Li
00451684	Pat2	PubMed: Li 2024, Journal: Li 2024	5-generation family, 2 affected (1F, 1M), unaffected heterozygous carrier parents/relatives	F;M	yes	China	Asia	05y	-	-	-	GT2;BDPLT23	Easy bleeding (HP:0011889), Subcutaneous hemorrhage (HP:0001933), Epistaxis (HP:0000421), Gingival bleeding(HP:0000225), Oral cavity bleeding (HP:0030140), Menorrhagia (HP:0000132); brother died 5y-oral cavity/nasal hemorrhage	ITGB3	ITGB3	1	2	Zhenjiang Li
00470752	PatET	PubMed: Bajt 1992	-	-	-	United States	-	-	-	-	-	GT2;BDPLT23	see paper; ...	ITGB3	ITGB3	1	1	Johan den Dunnen
00470754	PatMS	PubMed: Lanza 1992	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	France	-	-	-	-	-	GT2;BDPLT23	see paper; ...	ITGB3	ITGB3	1	1	Johan den Dunnen
00470755	family	PubMed: Loftus 1990	family, 2 affected sibs	-	-	United States	-	-	-	-	-	GT2;BDPLT23	see paper; ...	ITGB3	ITGB3	1	2	Johan den Dunnen
00470756	PatP	PubMed: Chen 1992	-	-	-	United States	-	-	-	-	-	GT2;BDPLT23	see paper; ..., life-long bleeding tendency, failure of platelets to aggregate and bind fibrinogen in response to agonists such as ADP, collagen, or thrombin	ITGB3	ITGB3	1	1	Johan den Dunnen
00470762	patient	PubMed: Simsek 1993	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Netherlands	-	-	-	-	-	GT2;BDPLT23	see paper; ..., childhood severe hemorrhagic diathesis, epistaxis, gingival bleeding, menorrhagia, (regular transfusions whole blood and/or platelets	ITGB3	ITGB3	2	1	Johan den Dunnen
00470768	patient	PubMed: Grimaldi 1996	-	F	yes	China	-	-	-	-	-	GT2;BDPLT23	see paper; ..., lifelong epistaxis, gum bleeding, petechias, purpura; severe monorrhagia, anemia, need for whole-blood transfusion; normal coagulation assays; prolonged bleeding time; absent clot retraction; decreased glass bead retention; absent platelet aggregation in response to adenine diphosphate/pinephrine/collagen; normal initial slope of platelet aggregation in response to ristocetin, but with a diminished maximal extent.	ITGB3	ITGB3	1	1	Johan den Dunnen
00470769	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470770	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470771	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470772	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470773	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470774	family	PubMed: Newman 1991	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470778	FamPatII2	PubMed: Rosenberg 1997	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	ITGB3	ITGB3	1	1	Johan den Dunnen
00470779	family	PubMed: Rosenberg 1997	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	ITGB3	ITGB3	1	1	Johan den Dunnen
00470780	family	PubMed: Rosenberg 1997	family	-	-	Israel	jew;Iraq	-	-	-	-	GT2;BDPLT23	see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine	ITGB3	ITGB3	1	1	Johan den Dunnen
00470781	PatRM	PubMed: Wang 1997	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	United States	African-American	-	-	-	-	GT2;BDPLT23	see paper; ..., normal platelet counts, severe bleeding since birth	ITGB3	ITGB3	2	1	Johan den Dunnen
00470782	patient	PubMed: Ferrer 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Spain	white	-	-	-	-	GT2;BDPLT23	see paper; ..., from birth mucocutaneous bleeding episodes, unprovoked bruising, copious menstrual hemorrhages	ITGB3	ITGB3	1	1	Johan den Dunnen
00470796	GT03	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470797	GT04	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	2	1	Johan den Dunnen
00470798	GT07	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470799	GT08	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470800	GT09	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	2	1	Johan den Dunnen
00470801	GT11	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470802	GT16	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470803	GT17	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470804	GT20	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	2	1	Johan den Dunnen
00470805	GT21	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470806	GT25	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470807	GT32	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470808	GT33	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470809	GT34	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470810	GT39	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470811	GT40	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470812	GT42	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470813	GT48	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470814	GT50	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470815	GT53	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470816	GT55	PubMed: Peretz 2006	-	M	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470817	GT60-1	PubMed: Peretz 2006	family, 2 affected sibs	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	2	Johan den Dunnen
00470818	GT60-2	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470819	GT64	PubMed: Peretz 2006	-	F	-	India	-	-	-	-	-	GT2;BDPLT23	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470820	MR	PubMed: D'Andrea 2002	patient	M	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., moderate	ITGB3	ITGB3	1	1	Johan den Dunnen
00470821	SM	PubMed: D'Andrea 2002	patient	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., mild	ITGB3	ITGB3	2	1	Johan den Dunnen
00470822	LPR	PubMed: D'Andrea 2002	patient	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., moderate	ITGB3	ITGB3	2	1	Johan den Dunnen
00470823	GI	PubMed: D'Andrea 2002	patient	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., mild	ITGB3	ITGB3	1	1	Johan den Dunnen
00470824	DOM	PubMed: D'Andrea 2002	patient	M	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., mild	ITGB3	ITGB3	1	1	Johan den Dunnen
00470825	CI	PubMed: D'Andrea 2002	family, 3 affected	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., moderate	ITGB3	ITGB3	1	3	Johan den Dunnen
00470826	CD	PubMed: D'Andrea 2002	twin brother	M	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., moderate	ITGB3	ITGB3	1	1	Johan den Dunnen
00470827	CG	PubMed: D'Andrea 2002	sib	F	-	Italy	-	-	-	-	-	GT2;BDPLT23	see paper; ..., severe	ITGB3	ITGB3	1	1	Johan den Dunnen
00470846	RS	PubMed: Jin 1996	2-generation family, 1 affected, unaffected mother	F	-	United States	African-American	-	-	-	-	GT2;BDPLT23	see paper; ..., lifelong bleeding history, primarily nasal/gingival mucosa, menses	ITGB3	ITGB3	1	1	Johan den Dunnen

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Global Variome shared LOVD

NRN1 (neuritin 1)