All individuals with variants in gene P3H1

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

155 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000039	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	ADPKD	-	1	1	Global Variome, with Curator vacancy
00080910	-	PubMed: Trujillano 2017	no information from parents	-	-	-	-	-	-	-	-	OI8	Osteogenesis imperfecta, type VIII (OMIM:610915)	1	1	Daniel Trujillano
00289839	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00289840	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	251	Mohammed Faruq
00304202	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	7	Mohammed Faruq
00327447	B31	PubMed: Demir 2021	analysis 43 OI patients	M	-	Turkey	-	-	-	-	-	OI	-	1	1	Johan den Dunnen
00327448	B32	PubMed: Demir 2021	analysis 43 OI patients	M	-	Turkey	-	-	-	-	-	OI	-	2	1	Johan den Dunnen
00331499	14DG2214 , 14DG2217	PubMed: Maddirevula 2018	family, 2 affected (2F)	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Multiple prenatal fractures, Recurrent infections, Hypochromic anemia, Blue sclerae, Oste Yes	1	2	LOVD
00331500	11DG1523	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent fractures, Dentinogenesis imperfecta	1	1	LOVD
00331501	13DG1116	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Multiple prenatal fractures, Brachycephaly, Triangular face, Wormian bones, Osteopenia, Yes	1	1	LOVD
00331502	14DG0847 ,14DG0848,14DG0849	PubMed: Maddirevula 2018	family, 3 affected (F, 2M)	F;M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Hypertelorism, Microganathia, Small anterior fontanelle, Joint hypermobility, Neonatal re Yes	1	3	LOVD
00331503	15DG0559	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Recurrent infections	1	1	LOVD
00331504	17DG0807	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopenia, Pulmonary hypoplasia, Recurrent fractures	1	1	LOVD
00373005	No. 302	PubMed: Caparros-Martin 2016	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373006	OI 10	PubMed: Mohd Nawawi 2018	-	-	-	Malaysia	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373007	OI 14	PubMed: Mohd Nawawi 2018	-	-	-	Malaysia	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373008	31	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Peter Byers
00373009	-	PubMed: Huang 2017	-	-	-	China	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373010	-	PubMed: Rauch 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373011	Proband 4	PubMed: Baldridge 2008	-	-	-	Ireland	Irish Traveller	-	-	-	-	OI	-	1	1	Peter Byers
00373012	Proband 5	PubMed: Baldridge 2008	-	-	-	Ireland	Irish Traveller	-	-	-	-	OI	-	1	1	Peter Byers
00373013	Proband 6	PubMed: Baldridge 2008	-	-	-	Ireland	Irish Traveller	-	-	-	-	OI	-	1	1	Peter Byers
00373014	30	PubMed: Pepin 2013	-	-	-	-	-	-	-	-	-	OI	-	2	1	Peter Byers
00373015	Proband 7	PubMed: Baldridge 2008	This patient was subsequently presented as patient 1 by {PMID24498616:Pepin et al., 2013}.	-	-	United States	Native American	-	-	-	-	OI	-	1	1	Peter Byers
00373016	VI:1 & VI:3	PubMed: van Dijk 2010	-	-	yes	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373017	-	PubMed: Popkov, 2018	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373018	2	PubMed: Pepin 2013	-	-	-	Somalia	-	-	-	-	-	OI	-	1	1	Peter Byers
00373019	-	PubMed: Takagi 2012	-	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373020	3	PubMed: Pepin 2013	-	-	-	-	Arab	-	-	-	-	OI	-	1	1	Peter Byers
00373021	32	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Peter Byers
00373022	Proband 2-1	PubMed: Willaert 2008	The sister (Proband 2-2) of this male proband is also homozygous for the same mutation.	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373023	Proband 4	PubMed: Cabral 2007	The patient has also been described as Proband 8 by PubMed: Chang et al., 2010.	-	-	United States	African-American;Virgin Islands (US)	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373024	Proband 15	PubMed: Baldridge 2008	This patient was subsequently presented as patient 33 by {PMID24498616:Pepin et al., 2013} though the Proband number is mis-identified as 5, rather than as 15.	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Peter Byers
00373025	34	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Peter Byers
00373026	-	PubMed: Moul 2013	-	-	-	-	African-Colombian;African-American	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373027	P59	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373028	Fam2Pat2	PubMed: Caparrós-Martin 2013	younger sister (AN_002112) also harbours the same variants.	-	-	Spain	-	-	-	-	-	BRKS	-	1	1	Victor L Ruiz-Perez
00373029	Proband 8	PubMed: Baldridge 2008	-	-	-	-	Arab	-	-	-	-	OI	-	1	1	Peter Byers
00373030	P43	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373031	-	-	-	-	-	-	-	-	-	-	-	OI	-	1	1	Yanqin Lu
00373032	Proband 1	PubMed: Cabral 2007	-	-	-	Ghana	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373033	Proband 2	PubMed: Cabral 2007	The probands sibling (2-2, terminated at 19 weeks) is described as Proband 7 by PubMed: Chang et al., 2010.	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373034	Proband 3	PubMed: Cabral 2007	-	-	-	Nigeria	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373035	Proband 11	PubMed: Baldridge 2008	This patient was subsequently presented as patient 5 by {PMID24498616:Pepin et al., 2013}.	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373036	Proband 12	PubMed: Baldridge 2008	This patient was subsequently presented as patient 6 by {PMID24498616:Pepin et al., 2013}.	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373037	Proband 13	PubMed: Baldridge 2008	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373038	Proband 14	PubMed: Baldridge 2008	This patient was subsequently presented as patient 13 by {PMID24498616:Pepin et al., 2013}.	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373039	D1	PubMed: Bodian 2009	-	-	-	United States	African-American?	-	-	-	-	OI	-	1	1	Peter Byers
00373040	D3	PubMed: Bodian 2009	-	-	-	United States	African-American?	-	-	-	-	OI	-	1	1	Peter Byers
00373041	Family 46	PubMed: Pyott 2011	-	-	-	-	-	-	-	-	-	OI	-	1	1	Peter Byers
00373042	4	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373043	7	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373044	8	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373045	9	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373046	10	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373047	11	PubMed: Pepin 2013	-	-	-	Haiti	African	-	-	-	-	OI	-	1	1	Peter Byers
00373048	12	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373049	14	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373050	15	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Peter Byers
00373051	36	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Peter Byers
00373052	37	PubMed: Pepin 2013	-	-	-	-	-	-	-	-	-	OI	-	2	1	Peter Byers
00373053	38	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Peter Byers
00373054	39	PubMed: Pepin 2013	-	-	-	-	Asian Indian	-	-	-	-	OI	-	2	1	Peter Byers
00373055	40	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Peter Byers
00373056	41	PubMed: Pepin 2013	-	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Peter Byers
00373057	-	PubMed: Rauch 2014	-	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373058	P1	PubMed: Barbirato 2015	The proband is the son of cousin parents whose DNA was not available for testing.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373059	Proband 4	PubMed: Fratzl-Zelman 2016	-	-	-	United States	African-American	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373060	Proband 5	PubMed: Fratzl-Zelman 2016	-	-	-	Ghana	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373061	Proband 6	PubMed: Fratzl-Zelman 2016	The proband died at 3 weeks of age.	-	-	Ghana	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373062	-	-	The probands OI diagnosed sister also harbours the same homozygous mutation.	-	-	Palestine	-	-	-	-	-	OI	-	1	1	Sofie Symoens
00373063	-	-	Diagnosed prenatally via U/S with OI. 5 fractures at age 21 months: bilateral femur fractures at least twice, bilateral ulnae, bilateral humerus, and a questionable skull fracture. Currently, at age 14, is ambulatory and plays sports.	-	-	United States	African-American	-	-	-	-	OI	-	2	1	Myla Ashfaq
00373064	-	PubMed: Santana 2018	The phenotype is described as being moderately severe.	-	-	-	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373065	P2	PubMed: Barbirato 2015	The parents of the proband are reported not to be consanguineous. Only one P3H1 variant was detected in the proband in spite of all exons of P3H1 being sequenced.	-	-	-	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373066	Proband 3	PubMed: Willaert 2008	-	-	-	Belgium	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373067	16	PubMed: Pepin 2013	-	-	-	-	Hispanic	-	-	-	-	OI	-	1	1	Peter Byers
00373068	42	PubMed: Pepin 2013	-	-	-	Italy	-	-	-	-	-	OI	-	2	1	Peter Byers
00373069	43	PubMed: Pepin 2013	-	-	-	-	-	-	-	-	-	OI	-	2	1	Peter Byers
00373070	P39	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373071	Proband 18	PubMed: Baldridge 2008	This patient was subsequently presented as patient 17 by {PMID24498616:Pepin et al., 2013}.	-	-	Canada	First Nations Canadian	-	-	-	-	OI	-	1	1	Peter Byers
00373072	Proband 19	PubMed: Baldridge 2008	This patient was subsequently presented as patient 20 by {PMID24498616:Pepin et al., 2013}.	-	-	Viet Nam	-	-	-	-	-	OI	-	1	1	Peter Byers
00373073	18	PubMed: Pepin 2013	-	-	-	Viet Nam	-	-	-	-	-	OI	-	1	1	Peter Byers
00373074	19	PubMed: Pepin 2013	-	-	-	Viet Nam	-	-	-	-	-	OI	-	1	1	Peter Byers
00373075	Family 1	PubMed: Caparrós-Martin 2013	-	-	-	Egypt	-	-	-	-	-	OI	-	1	1	Victor L Ruiz-Perez
00373076	44	PubMed: Pepin 2013	-	-	-	-	-	-	-	-	-	OI	-	2	1	Peter Byers
00373077	21	PubMed: Pepin 2013	-	-	-	Lebanon	-	-	-	-	-	OI	-	1	1	Peter Byers
00373078	22	PubMed: Pepin 2013	-	-	-	Finland	-	-	-	-	-	OI	-	1	1	Peter Byers
00373079	P7	PubMed: Mrosk 2018	The patient is described as having severe OI.	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373080	P9	PubMed: Mrosk 2018	The patient was reported to be compound heterozygous, with both parents being carriers.	-	-	India	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373081	Proband 17	PubMed: Baldridge 2008	This patient was subsequently presented as patient 23 by {PMID24498616:Pepin et al., 2013}.	-	-	France	French-Canadian	-	-	-	-	OI	-	1	1	Peter Byers
00373082	Proband 3	PubMed: Fratzl-Zelman 2016	-	-	-	-	white	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373083	Proband 1	PubMed: Willaert 2008	-	-	-	Lebanon	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373084	Proband 16	PubMed: Baldridge 2008	This patient was subsequently presented as patient 24 by {PMID24498616:Pepin et al., 2013}.	-	-	-	Asian Indian	-	-	-	-	OI	-	1	1	Peter Byers
00373085	Proband 5	PubMed: Chang 2010	This patient was subsequently described as Proband 2 by {PMID27383115: Fratzl-Zelman et al., 2016}.	-	-	Pakistan	-	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373086	Proband 1	PubMed: Zhang 2011	-	-	-	China	Han	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373087	Proband 2	PubMed: Zhang 2011	-	-	-	China	Han	-	-	-	-	OI	-	2	1	Raymond Dalgleish
00373088	-	PubMed: Barbirato 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00373089	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Raymond Dalgleish
00373090	P42	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00373091	P42	PubMed: Mrosk 2018	-	-	-	India	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish

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Global Variome shared LOVD

P3H1 (prolyl 3-hydroxylase 1)