Disease #02223 (CHM (choroideremia (CHM)), OMIM:303100)

Official abbreviation	CHM
Name	choroideremia (CHM)
OMIM ID	303100
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked dominant
Individuals reported having this disease	570
Phenotype entries for this disease	569
Associated with 1 gene	CHM
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-01-26 14:21:26 +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'

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.

570 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		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
00164773	CHM9	PubMed: Vaché 2019	-	M	no	France	-	-	-	-	-	CHM	HP:0001139	CHM	CHM	1	1	David Baux
00164774	CHM10	PubMed: Vaché 2019	-	M	no	France	-	-	-	-	-	CHM	HP:0001139	CHM	CHM	1	1	David Baux
00164775	CHM8	PubMed: Vaché 2019	-	M	no	France	-	-	-	-	-	CHM	HP:0001139	CHM	CHM	1	1	David Baux
00166255	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166256	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166257	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166258	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166259	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166260	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166261	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166262	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166263	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166265	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166266	-	PubMed: GarciajalopezHoyos 2008	-	M	-	Spain	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166268	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166269	-	PubMed: Villaverde 2007	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166270	-	PubMed: Beaufrère 1997	-	M	-	France	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166271	-	PubMed: Villaverde 2007	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166272	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166273	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166274	-	PubMed: van den Hurk 2003	-	M	-	Germany	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166275	-	PubMed: van den Hurk 2003	-	M	-	Germany	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166276	-	PubMed: Nesslinger 1996	-	M	-	Canada	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166277	-	PubMed: Itabashi 2004	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166278	-	PubMed: Itabashi 2004	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166279	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166282	-	PubMed: van Bokhoven 1994	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166283	-	PubMed: GarciajalopezHoyos 2008	-	M	-	Spain	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166284	-	PubMed: Beaufrère 1997	-	M	-	France	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166285	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166286	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166287	-	PubMed: Mc Donald 2004	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166288	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166289	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166290	-	PubMed: van Bokhoven 1994	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166291	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166292	-	PubMed: Yip 2007	-	M	-	China	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166293	-	PubMed: GarciajalopezHoyos 2008	-	M	-	Spain	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166294	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166295	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166296	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166297	-	PubMed: Yip 2007	-	M	-	China	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166298	-	PubMed: Yip 2007	-	M	-	China	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166299	-	PubMed: Van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166300	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166301	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166302	-	PubMed: GarciajalopezHoyos 2008	-	M	-	Spain	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166303	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166304	-	PubMed: van den Hurk 1997	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166305	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166306	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166307	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166308	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166309	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166310	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166311	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166312	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166313	-	PubMed: Francis 2005	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166314	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166315	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166316	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166317	-	-	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166318	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166319	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166320	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166321	-	PubMed: Beaufrère 1997	-	M	-	France	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166322	-	PubMed: van den Hurk 1997	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166323	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166324	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166325	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166326	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166327	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166328	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166329	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166330	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166332	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166333	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166334	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166335	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166336	-	PubMed: Mc Donald 1998	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166337	-	PubMed: GarciajalopezHoyos 2008	-	M	-	Spain	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166338	-	PubMed: van Bokhoven 1994	-	M	-	Denmark	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166339	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166340	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166341	-	PubMed: Iino 2008	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166343	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166344	-	PubMed: van den Hurk 2003	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166345	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166346	-	PubMed: van den Hurk 1997	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166347	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166348	-	PubMed: Trujillo 1998	-	M	-	Spain	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166349	-	PubMed: Yip 2007	-	M	-	China	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166350	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166351	-	PubMed: Nesslinger 1996	-	M	-	Canada	Jewish-Ashkenazi	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166352	-	PubMed: Jacobson 2006	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166353	-	PubMed: van Bokhoven 1994	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166354	-	PubMed: Fujiki 1999	-	M	-	Japan	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166355	-	PubMed: Mc Taggart 2002	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166356	-	PubMed: Nesslinger 1996	-	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux
00166357	-	PubMed: Yau 2007	Carrier	M	-	-	-	-	-	-	-	CHM	-	-	CHM	1	1	David Baux

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Global Variome shared LOVD

SRD5A3 (steroid 5 alpha-reductase 3)