All individuals with variants in gene PEX6

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:

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

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))
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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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.

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

	Legend	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00050127	-	article in revision at "Human Mutation"	-	-	yes	Egypt	-	-	-	-	PBD	-	1	2	Hanno Bolz
00051496	-	F131	-	F	yes	Turkey	-	-	-	-	PBD-4B	PBD-4B (Moderate)	1	1	Claire Guissart
00051497	-	F131	-	M	yes	Turkey	-	-	-	-	PBD-4B	PBD-4B (moderate)	1	1	Claire Guissart
00065273	26387595-Fam5PatII2	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	-	>21y	-	-	HMLR-1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)	2	2	Jamie Zeegers
00065274	26387595-Fam5PatII3	PubMed: Ratbi 2015, Journal: Ratbi 2015	-	F	no	United Kingdom (Great Britain)	-	>16y	-	-	HMLR-1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), severe sensorineural hearing impairment (HP:0008625), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)	2	1	Jamie Zeegers
00065275	26387595-Fam6PatII1	PubMed: Ratbi 2015, Journal: Ratbi 2015	2-generation family, twin sisters, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	-	>21y	-	-	HMLR-1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754)	2	2	Jamie Zeegers
00065276	26387595-Fam6PatII2	PubMed: Ratbi 2015, Journal: Ratbi 2015	-	F	no	United Kingdom (Great Britain)	-	>21y	-	-	HMLR-1	Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754)	2	1	Jamie Zeegers
00080829	-	Trujillano et al., submitted	unaffected parents	-	-	-	-	-	-	-	PBD-4A	Peroxisomebiogenesis disorder 4A (OMIM:614862)	1	1	Daniel Trujillano
00208599	Fam301	-	-	-	-	-	-	-	-	-	cancer, colon	-	1	3	Xiang Jiao
00282363	-	PubMed: Nobukuni 1996, PubMed: Lalwani 1998, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	WS	-	1	1	LOVD-team, but with Curator vacancy
00283298	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283299	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283300	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283301	-	PubMed: Zhang 1999, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283302	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283303	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283304	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283305	-	PubMed: Yik 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283306	-	PubMed: Yik 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283307	-	PubMed: Yik 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283308	-	PubMed: Raas-Rothschild 2002	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283309	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283310	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283311	-	PubMed: Zhang 1999, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283312	-	PubMed: Zhang 1999	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283313	-	PubMed: Yahraus 1996	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283314	-	PubMed: Matsumoto 2001	-	-	-	-	-	-	-	-	?	-	1	1	LOVD-team, but with Curator vacancy
00283315	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283316	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283317	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283318	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283319	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283320	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283321	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283322	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283323	-	PubMed: Raas-Rothschild 2002, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283324	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283325	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283326	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283327	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283328	-	PubMed: Ratbi 2015	-	-	-	-	-	-	-	-	?	-	1	1	LOVD-team, but with Curator vacancy
00283329	-	PubMed: Ratbi 2015	-	-	-	-	-	-	-	-	?	-	1	1	LOVD-team, but with Curator vacancy
00283330	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283331	-	-	-	-	-	-	-	-	-	-	-	-	1	1	LOVD-team, but with Curator vacancy
00283332	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283333	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283334	-	PubMed: Grunert 2014	-	-	-	-	-	-	-	-	?	-	1	1	LOVD-team, but with Curator vacancy
00283335	-	PubMed: Raas-Rothschild 2002	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283336	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283337	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283338	-	PubMed: Zhang 1999, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283339	-	PubMed: Najmabadi 2011	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283340	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283341	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283342	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283343	-	PubMed: Krause 2006	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283344	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283345	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283346	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283347	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283348	-	PubMed: Zhang 1999	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283349	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283350	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283351	-	PubMed: Fukuda 1996, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283352	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283353	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283354	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283355	-	PubMed: Yik 2009	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283356	-	PubMed: Zhang 1999, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283357	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283358	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283359	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283360	-	PubMed: Ratbi 2015, PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283361	-	PubMed: Zhang 1999	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283362	-	PubMed: Matsumoto 2001, PubMed: Levesque 2012	-	-	-	-	-	-	-	-	?	-	1	1	LOVD-team, but with Curator vacancy
00283363	-	PubMed: Zhang 1999	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283364	-	-	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283365	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	-	1	1	LOVD-team, but with Curator vacancy
00283366	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283367	-	PubMed: Krause 2006, PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283368	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	1	1	LOVD-team, but with Curator vacancy
00283369	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283370	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283371	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283372	-	PubMed: Al-Gazali 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283373	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283374	-	PubMed: Zhang 1999	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283375	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283376	-	PubMed: Fukuda 1996	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283377	-	PubMed: Grunert 2014	-	-	-	-	-	-	-	-	?	-	1	1	LOVD-team, but with Curator vacancy
00283378	-	PubMed: Zhang 1999	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283379	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283380	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283381	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283382	-	PubMed: Zhang 1999	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283383	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283384	-	PubMed: Imamura 2000	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283385	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00283386	-	PubMed: Steinberg 2004	-	-	-	-	-	-	-	-	PBD	-	1	1	LOVD-team, but with Curator vacancy
00289433	-	-	-	F	-	-	-	-	-	-	?	Muscular hypotonia (HP:0001252); Multicystic kidney dysplasia (HP:0000003); Syndactyly (HP:0001159); Seizures (HP:0001250); Failure to thrive (HP:0001508); Retrognathia (HP:0000278); Low-set ears (HP:0000369); Hypertelorism (HP:0000316); Joint hypermobility (HP:0001382); Rocker bottom foot (HP:0001838)	1	1	IMGAG

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Global Variome shared LOVD

PEX6 (peroxisomal biogenesis factor 6)

All individuals with variants in gene PEX6

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