Disease #05079 (PBD (peroxisome biogenesis disorder (Zellweger syndrome)))

Official abbreviation	PBD
Name	peroxisome biogenesis disorder (Zellweger syndrome)
OMIM ID	-
Inheritance	Polygenic (>3 genes)
Individuals reported having this disease	1047
Phenotype entries for this disease	784
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-09-25 13:40:55 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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'

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1047 entries on 11 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11		Next ›	Last »

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
00050127	-	article in revision at "Human Mutation"	-	-	yes	Egypt	-	-	-	-	-	PBD	-	PEX6	PEX6	1	2	Hanno Bolz
00282884	-	PubMed: Shaheen 2011	-	-	-	-	-	-	-	-	-	PBD	-	HSD17B4	HSD17B4	1	1	Global Variome, with Curator vacancy
00282894	-	PubMed: Shaheen 2011	-	-	-	-	-	-	-	-	-	PBD	-	HSD17B4	HSD17B4	1	1	Global Variome, with Curator vacancy
00283299	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283301	-	PubMed: Xiong 2015	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283302	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283305	Pat713	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	PEX6	PEX6	2	1	Global Variome, with Curator vacancy
00283306	Pat720	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283307	Pat609	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	PEX6	PEX6	2	1	Global Variome, with Curator vacancy
00283308	FamPatII1	PubMed: Raas-Rothschild 2002	2-generation family, 3 affected, parents and son; son	M	-	Israel	Algeria;Jewish-Ashkenazi;Jewish-Yemenite	-	-	-	-	PBD	see paper; ...	PEX6	PEX6	2	3	Nancy Braverman
00283309	-	PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283310	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283311	C-05	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	2	1	Nancy Braverman
00283312	C-14	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283313	PBD106	PubMed: Yahraus 1996	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	2	1	Global Variome, with Curator vacancy
00283314	PBD6-01	PubMed: Matsumoto 2001	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	3	1	Nancy Braverman
00283317	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283321	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Johan den Dunnen
00283323	PatII1m	PubMed: Raas-Rothschild 2002	mother	F	-	Israel	Algeria;Jewish-Ashkenazi	-	-	-	-	PBD	see paper; ...	PEX6	PEX6	3	1	Nancy Braverman
00283324	-	PubMed: Krause 2009	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Johan den Dunnen
00283332	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283335	PatII1f	PubMed: Raas-Rothschild 2002	father	M	-	Israel	Yemenite;Jewish	-	-	-	-	PBD	see paper; ...	PEX6	PEX6	1	1	Nancy Braverman
00283338	C-03	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283339	FamM331	PubMed: Najmabadi 2011	family, 5 affected	-	yes	Iran	-	-	-	-	-	PBD	moderate intellectual disability retinitis pigmentosa, hearing loss, ataxia	PEX6	AP4B1, ETV7, PEX6	3	5	Global Variome, with Curator vacancy
00283346	-	PubMed: Bean 2013	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283348	C-10	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283351	Pat2	PubMed: Fukuda 1996	-	F	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283352	-	PubMed: Ebberink 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283353	-	PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283354	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283355	Pat710	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	PEX6	PEX6	3	1	Global Variome, with Curator vacancy
00283356	C-09	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283361	C-15	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283363	C-07	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283364	-	-	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283367	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283372	-	PubMed: Al-Gazali 2010	-	-	-	United Arab Emirates	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283374	C-02	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283376	Pat1/GM04340	PubMed: Fukuda 1996	-	-	yes	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283378	C-12	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283379	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283381	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	2	1	Global Variome, with Curator vacancy
00283382	C-13	PubMed: Zhang 1999	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	2	1	Global Variome, with Curator vacancy
00283384	C-11	PubMed: Imamura 2000	-	-	-	Japan	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Nancy Braverman
00283385	-	PubMed: Ebberink 2010	-	-	-	-	-	-	-	-	-	PBD	-	PEX6	PEX6	1	1	Global Variome, with Curator vacancy
00283387	-	PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	PBD	-	MITF	MITF	1	1	Global Variome, with Curator vacancy
00283619	Pat719	PubMed: Yik 2009	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283621	Pat627	PubMed: Yik 2009	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283622	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283625	patient	PubMed: Rosewich 2005	-	-	-	-	-	-	-	-	-	PBD	zellweger syndrome	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283630	ZS23	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283631	PatV,N	PubMed: Rosewich 2005	-	-	-	Germany	-	00y04m	-	-	-	PBD	4m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; no epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; no cataract; no retinitis pigmentosa; optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; raised liver enzymes; no renal cysts	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283632	ZS22	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283633	-	PubMed: Mohebbi 2012	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283634	Pat616	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283637	ZS2	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283640	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283641	-	, PubMed: Portsteffen 1997	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283642	ZS24	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283646	Pat604	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	PEX1	PEX1, PEX26	2	1	Global Variome, with Curator vacancy
00283648	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283649	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283654	ZS5	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283656	-	, PubMed: Gärtner 1999, PubMed: Waterham 2012, PubMed: Weleber 1993, PubMed: Bean 2013 1998, PubMed: Portsteffen 1997, PubMed: Steinberg 2006 2001, 2005,	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283657	PDB190	PubMed: Reuber 1997	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283660	PatG,D	PubMed: Rosewich 2005	-	-	-	Germany	-	-	-	-	-	PBD	large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; no external ear deformity; no sickle foot; poor sucking; no gavage feeding; hypotonia; severe psychomotor retardation; no seizures; no cataract; no retinitis pigmentosa; optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; raised liver enzymes; renal cysts	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283661	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283662	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283665	ZS1	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283666	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283669	-	, PubMed: Bean 2013, PubMed: Heimler 1991, PubMed: Gärtner 1992, PubMed: Steinberg 2006, PubMed: Ratbi 2015	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283671	PatK,M	PubMed: Rosewich 2005	-	-	-	Germany	-	00y03m	-	-	-	PBD	3m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; hepatomegaly; no liver fibrosis; no raised liver enzymes; calcific stipling	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283673	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283676	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283678	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283682	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283683	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283684	PatK,K	PubMed: Rosewich 2005	-	-	-	Germany	-	00y02m	-	-	-	PBD	2m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; hepatomegaly; liver fibrosis; raised liver enzymes; renal cysts	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283685	Pat716	PubMed: Yik 2009	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283686	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283689	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283694	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283696	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283697	ZS25	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283700	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283706	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283709	-	PubMed: Sun 2013, ,	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283711	ZS14	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	3	1	Global Variome, with Curator vacancy
00283718	-	PubMed: Sun 2013	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283724	PatG,A	PubMed: Rosewich 2005	-	-	-	Germany	-	01y11m	-	-	-	PBD	1y11m-deceased; high forehead; broad nasal bridge; hypertelorism; no epicanthus; external ear deformity; sickle foot; poor sucking; no gavage feeding; hypotonia; severe psychomotor retardation; no seizures; no cataract; no retinitis pigmentosa; no optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; no raised liver enzymes	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283725	ZS7	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283727	Pat707	PubMed: Yik 2009	-	-	-	United States	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283728	ZS30	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283729	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00283730	ZS15	PubMed: Thoms 2011	-	-	-	Germany	-	-	-	-	-	PBD	-	PEX1	PEX1	2	1	Global Variome, with Curator vacancy
00283733	-	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX1	PEX1	1	1	Global Variome, with Curator vacancy
00309875	patient	PubMed: Mohamed 2010	-	F	yes	Saudi Arabia	-	-	-	-	-	PBD	see paper; ...	PEX19	PEX19	1	1	Nancy Braverman
00309876	patient	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	see paper; ...	PEX19	PEX19	1	1	Shandi Hiebler
00309877	PBDJ-01	PubMed: Matsuzono 1999	-	-	-	Japan	-	-	-	-	-	PBD	see paper; ...	PEX19	PEX19	1	1	Nancy Braverman
00309879	patient	PubMed: Ebberink 2011	-	-	-	-	-	-	-	-	-	PBD	-	PEX19	PEX19	1	1	Johan den Dunnen

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Global Variome shared LOVD

IRS1 (insulin receptor substrate 1)