All individuals with variants in gene OTC

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.

529 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	Variants	Panel size	Owner
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	2	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00113109	-	PubMed: Azevedo 2003	-	-	-	Mozambique	-	-	-	-	-	?	-	4	2	Johan den Dunnen
00113110	-	PubMed: Azevedo 2003	-	-	-	Czech Republic	-	-	-	-	-	?	-	4	16	Johan den Dunnen
00113111	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	4	1	Johan den Dunnen
00113112	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	3	13	Johan den Dunnen
00113113	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	4	7	Johan den Dunnen
00113114	-	PubMed: Azevedo 2003	-	-	-	Czech Republic	-	-	-	-	-	?	-	3	13	Johan den Dunnen
00113115	-	PubMed: Azevedo 2003	-	-	-	Mozambique	-	-	-	-	-	?	-	3	18	Johan den Dunnen
00113116	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	2	21	Johan den Dunnen
00113117	-	PubMed: Azevedo 2003	-	-	-	Czech Republic	-	-	-	-	-	?	-	2	38	Johan den Dunnen
00113118	-	PubMed: Azevedo 2003	-	-	-	Czech Republic	-	-	-	-	-	?	-	2	7	Johan den Dunnen
00113119	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	3	3	Johan den Dunnen
00113120	-	PubMed: Azevedo 2003	-	-	-	Czech Republic	-	-	-	-	-	?	-	3	3	Johan den Dunnen
00113121	-	PubMed: Azevedo 2003	-	-	-	Mozambique	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00113122	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	3	1	Johan den Dunnen
00113123	-	-	-	F	-	-	-	-	-	-	-	OTCD	clinical symptoms compatible with OTCD, positive allopurinol test, normal plasma amino-acid profile	1	1	Lenka Dvořáková
00113124	-	PubMed: Azevedo 2003	-	-	-	Czech Republic	-	-	-	-	-	?	-	2	24	Johan den Dunnen
00113125	-	PubMed: Azevedo 2003	-	-	-	Mozambique	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00113126	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	2	6	Johan den Dunnen
00113127	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	2	3	Johan den Dunnen
00113128	-	PubMed: Azevedo 2003	-	-	-	Czech Republic	-	-	-	-	-	?	-	2	4	Johan den Dunnen
00113129	-	PubMed: Azevedo 2003	-	-	-	Mozambique	-	-	-	-	-	?	-	2	6	Johan den Dunnen
00113130	-	PubMed: Azevedo 2003	-	-	-	Portugal	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00113131	-	PubMed: Azevedo 2003	-	-	-	Czech Republic	-	-	-	-	-	?	-	1	4	Johan den Dunnen
00113132	-	PubMed: Suess 1992	-	M	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113133	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113134	-	PubMed: Tuchman 2002	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113135	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113136	-	PubMed: Tuchman 1997	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113137	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113138	-	PubMed: Oppliger Leibundgut 1997	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113139	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113140	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113141	-	PubMed: Climent and Rubio 2002	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113142	-	PubMed: Kim 2006	-	M	-	Korea	-	-	-	-	-	OTCD	onset 2d	1	1	Bert Bakker
00113143	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113144	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113145	-	Tanaka 2005	-	-	-	-	-	-	-	-	-	?	-	1	1	Bert Bakker
00113146	-	Hwu 2003	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113147	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00113148	-	PubMed: Mitchell 2009	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00113149	-	PubMed: Tuchman 2002	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113150	-	Grompe 1991	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113151	-	Grompe 1989	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113152	-	PubMed: Kim 2006	-	M	-	Korea	-	-	-	-	-	OTCD	onset 5d	1	1	Bert Bakker
00113153	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113154	-	PubMed: Kim 2006	-	M	-	Korea	-	-	-	-	-	OTCD	onset 1month	1	1	Bert Bakker
00113155	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113156	-	PubMed: Tuchman 1997	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113157	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113158	-	PubMed: Tuchman 2002	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113159	-	Hoshide 1996	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113160	-	PubMed: Tuchman 1997	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113161	-	PubMed: Engel 2008	mother carrier	M	-	Germany	-	-	-	-	-	OTCD	died on 4d	1	1	Johan den Dunnen
00113162	-	Bisanzi 2002	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113163	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113164	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113165	-	PubMed: Oppliger Leibundgut 1997	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113166	-	PubMed: Genet 2000	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113167	-	Calvas 1998	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker
00113168	-	Oppliger Leibundgut 1995	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker
00113169	-	PubMed: Tuchman 1994b	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker
00113170	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113171	-	PubMed: Oppliger Leibundgut 1997	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113172	-	PubMed: Yoo 1996; PubMed: Kim 2006	-	F	-	Korea	-	-	-	-	-	OTCD	onset 2m	1	1	Bert Bakker
00113173	-	PubMed: Tuchman 1998	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113174	-	Grompe 1989	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113175	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00113176	-	PubMed: Mitchell 2009	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00113177	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113178	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00113179	-	PubMed: Mitchell 2009	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00113180	-	Grompe 1989	-	-	-	-	-	-	-	-	-	?	-	1	1	Bert Bakker
00113181	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00113182	-	PubMed: Engel 2008	-	F	-	Germany	-	-	-	-	-	OTCD	well after liver transplant; OTC 0.4	15	1	Johan den Dunnen
00113183	-	PubMed: Mitchell 2009	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00113184	-	PubMed: Tarpey 2009	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	M	-	-	-	-	-	-	-	MRX;IDX	mental retardation, X-linked	1	33	Johan den Dunnen
00113185	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113186	-	PubMed: Tuchman 1997	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113187	-	Calvas 1998	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113188	-	PubMed: Shimadzu 1998	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113189	-	PubMed: Genet 2000	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113190	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113191	-	PubMed: Tuchman 1997	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker
00113192	-	Feldmann 1992	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113193	-	PubMed: McCullough 2000	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113194	-	PubMed: McCullough 2000	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113195	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113196	-	PubMed: McCullough 2000	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker
00113197	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker
00113198	-	PubMed: Tuchman 2002	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113199	-	Nishiyori 1998	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker
00113200	-	PubMed: Tuchman 1997	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker
00113201	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113202	-	PubMed: Yamaguchi 2006	-	-	-	-	-	-	-	-	-	OTCD	neonatal	1	1	Bert Bakker
00113203	-	PubMed: Tuchman 1997	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113204	-	PubMed: Oppliger Leibundgut 1997	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113205	-	PubMed: Yamaguchi 2006	-	F	-	-	-	-	-	-	-	OTCD	-	1	1	Bert Bakker
00113207	-	Oppliger Leibundgut 1996a	-	-	-	-	-	-	-	-	-	OTCD	late onset	1	1	Bert Bakker

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Global Variome shared LOVD

OTC (ornithine carbamoyltransferase)