Disease #01713 (CTLN1 (citrullinemia, type I (CTLN-1)), OMIM:215700)

Official abbreviation	CTLN1
Name	citrullinemia, type I (CTLN-1)
OMIM ID	215700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	555
Phenotype entries for this disease	453
Associated with 1 gene	ASS1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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.

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Operator	Column type	Example	Matches
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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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555 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
00109423	-	-	-	-	-	Germany	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109424	PatIG	Kobayashi ASH1989 A201, PubMed: Kobayashi 1990	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109425	PatMR	PubMed: Kobayashi 1991, PubMed: Kobayashi 1994	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109426	Pat358	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	deceased	ASS1	ASS1	2	1	Johan den Dunnen
00109427	Pat4	PubMed: Haberle 2003	-	-	-	Germany	-	-	-	-	-	CTLN1	see paper; ...	ASS1	ASS1	2	1	Johan den Dunnen
00109428	-	PubMed: Kleijer 2006	prenatal	-	-	Netherlands	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109429	-	-	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109432	Pat1	PubMed: Vilaseca 2001	-	-	-	Spain	-	-	-	-	-	CTLN1	see paper; ...	ASS1	ASS1	2	1	Johan den Dunnen
00109433	-	-	-	-	-	Thailand	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109434	-	-	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109436	Pat371	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	mild	ASS1	ASS1	1	1	Johan den Dunnen
00109437	Pat517	PubMed: Gao 2003	patient	-	-	Turkey	-	-	-	-	-	CTLN1	symptomatic hyperammonemia	ASS1	ASS1	1	1	Johan den Dunnen
00109438	Pat592	PubMed: Gao 2003	-	-	-	Turkey	-	-	-	-	-	CTLN1	deceased	ASS1	ASS1	1	1	Johan den Dunnen
00109439	Fam	PubMed: Engel 2009, PubMed: Diez-Fernandez 2016	family, 2 affected sibs	-	-	Italy	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109440	Pat233	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	deceased	ASS1	ASS1	1	1	Johan den Dunnen
00109441	Pat5	PubMed: Haberle 2002	-	-	-	Germany	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109442	Pat3	PubMed: Vilaseca 2001	-	-	-	Morocco	-	-	-	-	-	CTLN1	see paper; ...	ASS1	ASS1	1	1	Johan den Dunnen
00109443	Pat372	PubMed: Gao 2003	-	-	-	Austria	Turkey	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109444	Pat707	PubMed: Gao 2003	-	-	-	Thailand	Pakistan	-	-	-	-	CTLN1	deceased	ASS1	ASS1	1	1	Johan den Dunnen
00109445	Pat659	PubMed: Gao 2003	-	-	-	Spain	-	-	-	-	-	CTLN1	mild/asymptomatic	ASS1	ASS1	2	1	Johan den Dunnen
00109448	Pat283	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	pregnancy/postpartum	ASS1	ASS1	2	1	Johan den Dunnen
00109449	PatN1	PubMed: Kobayashi 1994	-	F	-	Japan	-	-	-	-	-	CTLN1	citrullinemia, type I	ASS1	ASS1	2	1	Johan den Dunnen
00109451	-	-	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109452	-	PubMed: Kleijer 2006	prenatal	-	-	Netherlands	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109453	-	-	-	-	-	United Kingdom (Great Britain)	Arabic	-	-	-	-	CTLN1	severe	ASS1	ASS1	2	1	Johan den Dunnen
00109454	Pat11	PubMed: Haberle 2003	-	-	-	Germany	-	-	-	-	-	CTLN1	see paper; ...	ASS1	ASS1	2	1	Johan den Dunnen
00109455	-	-	-	-	-	United States	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109456	PatN30	PubMed: Kakinoki 1997	-	-	-	Japan	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109457	-	-	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	9	Johan den Dunnen
00109458	-	-	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109459	-	-	-	-	-	China	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109460	-	-	-	-	-	Germany	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109461	Pat443	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109462	PatKSt	Kobayashi ASH1989 A201, PubMed: Kobayashi 1990	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109463	-	-	-	-	-	Germany	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109464	-	-	-	-	-	United Kingdom (Great Britain)	Scottish	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109465	-	-	-	-	-	Italy	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	2	1	Johan den Dunnen
00109468	Pat1a/b	PubMed: Haberle 2002	-	F;M	-	Turkey	-	-	-	-	-	CTLN1	mild affected (+MR) and asymptomatic sib	ASS1	ASS1	1	2	Johan den Dunnen
00109469	Pat591	PubMed: Gao 2003	-	-	-	Turkey	-	-	-	-	-	CTLN1	mild	ASS1	ASS1	2	1	Johan den Dunnen
00109472	Pat2a/b	PubMed: Haberle 2002	-	-	yes	Turkey	-	-	-	-	-	CTLN1	2 asymptomatic sibs	ASS1	ASS1	1	2	Johan den Dunnen
00109473	PatCB	PubMed: Kobayashi 1990	-	-	yes	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109477	Pat432	PubMed: Gao 2003	-	-	-	Israel	-	-	-	-	-	CTLN1	deceased	ASS1	ASS1	1	1	Johan den Dunnen
00109478	patient	PubMed: Engel 2009	-	-	-	United Kingdom (Great Britain)	Irish	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109479	PatN10	PubMed: Kobayashi 1994	-	F	-	Japan	-	-	-	-	-	CTLN1	citrullinemia, type I	ASS1	ASS1	2	1	Johan den Dunnen
00109483	Pat5	PubMed: Saner 2003, PubMed: Haberle 2003	-	-	-	Germany	-	-	-	-	-	CTLN1	see paper; ...	ASS1	ASS1	2	1	Johan den Dunnen
00109484	-	-	-	-	-	Germany	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109485	-	-	-	-	-	Poland	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109486	-	-	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109487	-	PubMed: Kleijer 2006	prenatal	-	-	Spain	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109488	Pat14	PubMed: Haberle 2003	-	-	-	Germany	Turkey	-	-	-	-	CTLN1	see paper; ..., mild	ASS1	ASS1	1	1	Johan den Dunnen
00109490	-	-	-	-	-	India	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	2	1	Johan den Dunnen
00109491	Pat319	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	mild	ASS1	ASS1	1	1	Johan den Dunnen
00109492	Pat324	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	pregnancy/postpartum	ASS1	ASS1	1	1	Johan den Dunnen
00109493	Pat649	PubMed: Gao 2003	-	-	-	Germany	Turkey	-	-	-	-	CTLN1	mild/asymptomatic]	ASS1	ASS1	1	1	Johan den Dunnen
00109494	Pat522	PubMed: Gao 2003	-	-	-	Turkey	-	-	-	-	-	CTLN1	deceased	ASS1	ASS1	1	1	Johan den Dunnen
00109496	Pat698	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	deceased	ASS1	ASS1	1	1	Johan den Dunnen
00109497	PatN8	PubMed: Kobayashi 1994	-	M	-	Japan	-	-	-	-	-	CTLN1	citrullinemia, type I	ASS1	ASS1	2	1	Johan den Dunnen
00109498	-	PubMed: Kleijer 2006	prenatal	-	-	Netherlands	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109499	-	-	-	-	-	France	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109500	Pat378	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	mild/asymptomatic	ASS1	ASS1	2	1	Johan den Dunnen
00109501	PatAC	PubMed: Li 2001,	-	-	-	China	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109502	PatN28	PubMed: Kakinoki 1997	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109503	PatN3	PubMed: Kobayashi 1994	-	F	-	Japan	-	-	-	-	-	CTLN1	citrullinemia, type I	ASS1	ASS1	2	1	Johan den Dunnen
00109504	-	-	-	-	-	France	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109507	Pat616	PubMed: Gao 2003	-	-	-	Belgium	Iran	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109508	-	-	-	-	-	Germany	-	-	-	-	-	CTLN1	mild	ASS1	ASS1	2	1	Johan den Dunnen
00109509	-	-	-	-	-	United States	German	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109512	-	-	-	-	-	Italy	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109513	-	-	-	-	-	Spain	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109515	PatRI	PubMed: Kobayashi 1990, PubMed: Kobayashi 1994	-	F	-	Japan	-	-	-	-	-	CTLN1	citrullinemia, type I	ASS1	ASS1	2	1	Johan den Dunnen
00109516	patient	PubMed: Ban 2001	2-generation family, 1 affected, unaffected heterozygous parents	F	-	Japan	-	-	-	-	-	CTLN1	see paper; ...	ASS1	ASS1	2	1	Johan den Dunnen
00109517	Pat368	PubMed: Gao 2003	-	-	-	Japan	-	-	-	-	-	CTLN1	deceased	ASS1	ASS1	2	1	Johan den Dunnen
00109518	Pat520	PubMed: Gao 2003	-	-	-	Turkey	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109519	PatN18	PubMed: Kakinoki 1997	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109520	Pat17	PubMed: Haberle 2003	-	-	-	Germany	-	-	-	-	-	CTLN1	see paper; ...	ASS1	ASS1	2	1	Johan den Dunnen
00109521	patient	PubMed: Whelan 1976, PubMed: Potter 2004	-	-	-	United States	-	-	-	-	-	CTLN1	asymptomatic, identified through newborn screening	ASS1	ASS1	2	1	Johan den Dunnen
00109522	Pat622	PubMed: Gao 2003	-	-	-	Canada	-	-	-	-	-	CTLN1	mild/asymptomatic	ASS1	ASS1	2	1	Johan den Dunnen
00109523	Pat600	PubMed: Gao 2003, Enns 2002	-	-	-	United States	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109524	-	-	-	-	-	Italy	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	2	1	Johan den Dunnen
00109526	Pat438	PubMed: Gao 2003	-	-	-	Germany	-	-	-	-	-	CTLN1	mild/asymptomatic	ASS1	ASS1	2	1	Johan den Dunnen
00109527	PatAH	PubMed: Kobayashi 1990	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109529	PatN1	PubMed: Hong 2000	-	-	-	Korea, South (Republic)	-	-	-	-	-	CTLN1	-	ASS1	ASS1	2	1	Johan den Dunnen
00109530	PatN11	PubMed: Kobayashi 1995	-	-	-	Japan	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	1	1	Johan den Dunnen
00109531	-	-	-	-	-	Mexico	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109532	-	-	-	-	-	Turkey	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109533	-	-	-	-	-	Germany	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109534	Pat3	PubMed: Haberle 2003	-	-	-	Germany	-	-	-	-	-	CTLN1	see paper; ...	ASS1	ASS1	2	1	Johan den Dunnen
00109535	-	-	-	-	-	Spain	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	2	1	Johan den Dunnen
00109536	-	-	-	-	-	Germany	-	-	-	-	-	CTLN1	mild	ASS1	ASS1	2	1	Johan den Dunnen
00109537	patient	PubMed: Ruitenbeek 2003	-	F	no	Netherlands	Turkey	-	-	-	-	CTLN1	see paper; ..., mild	ASS1	ASS1	1	1	Johan den Dunnen
00109539	Pat588	PubMed: Gao 2003	-	-	-	Germany	Turkey	-	-	-	-	CTLN1	mild/asymptomatic	ASS1	ASS1	1	1	Johan den Dunnen
00109540	-	-	-	-	-	Greece	-	-	-	-	-	CTLN1	severe	ASS1	ASS1	2	1	Johan den Dunnen
00109541	PatLP	PubMed: Kobayashi 1990	-	-	-	Japan	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109542	Pat524	PubMed: Gao 2003	-	-	-	Germany	-	-	-	-	-	CTLN1	mild/asymptomatic	ASS1	ASS1	2	1	Johan den Dunnen
00109543	Pat436	PubMed: Gao 2003	-	-	-	United States	Germany	-	-	-	-	CTLN1	deceased	ASS1	ASS1	2	1	Johan den Dunnen
00109544	PatN9	PubMed: Kobayashi 1994	-	M	-	Japan	-	-	-	-	-	CTLN1	citrullinemia, type I	ASS1	ASS1	2	1	Johan den Dunnen
00109545	16889683-Pat	PubMed: Kim 2006	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Korea	-	-	-	-	-	CTLN1	see paper; ..., recurrent generalized tonic clonic seizures, significant hyperammonemia (1,112 μg/dl)	ASS1	ASS1	2	1	Johan den Dunnen
00109546	PatA82	PubMed: Kobayashi 1994	-	F	-	Japan	-	-	-	-	-	CTLN1	citrullinemia, type I	ASS1	ASS1	2	1	Johan den Dunnen
00109548	-	-	-	-	-	Greece	-	-	-	-	-	CTLN1	-	ASS1	ASS1	1	1	Johan den Dunnen
00109550	Pat2	PubMed: Vilaseca 2001	-	-	-	Morocco	-	-	-	-	-	CTLN1	see paper; ..., severe	ASS1	ASS1	1	1	Johan den Dunnen

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Global Variome shared LOVD

SEPT12 (septin 12)