Disease #01662 (argininemia (argininemia), OMIM:207800)

Official abbreviation	argininemia
Name	argininemia
OMIM ID	207800
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	123
Phenotype entries for this disease	100
Associated with 1 gene	ARG1
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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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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^	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'
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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
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00108469	-	PubMed: Uchino 1995	3 related patients	-	-	Puerto Rico	-	-	-	-	argininemia	response dietary therapy good	ARG1	ARG1	2	3	Johan den Dunnen
00108471	-	PubMed: Uchino 1995	-	-	-	Canada	French	-	-	-	argininemia	response dietary therapy slow	ARG1	ARG1	2	1	Johan den Dunnen
00108472	-	PubMed: Uchino 1995	-	-	yes	Canada	French	-	-	-	argininemia	response dietary therapy good	ARG1	ARG1	1	1	Johan den Dunnen
00108473	-	PubMed: Cardoso 1999	unrelated patients	-	-	Portugal	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00108474	-	PubMed: Cardoso 1999	unrelated patients	-	-	Portugal	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00108475	-	PubMed: Cardoso 1999	unrelated patients	-	-	Portugal	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00108476	-	PubMed: Cardoso 1999	unrelated patients	-	-	Portugal	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00108478	patient	PubMed: Haraguchi 1990	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Japan	-	-	-	-	argininemia	mental retardation, microcephaly, spastic tetraplegia, intermittent convulsions	ARG1	ARG1	2	1	Johan den Dunnen
00108481	-	PubMed: Uchino 1992	-	-	-	Japan	-	-	-	-	argininemia	psychomotor retardation and spastic tetraplegia	ARG1	ARG1	2	1	Johan den Dunnen
00108482	-	PubMed: Uchino 1995	-	-	yes	Pakistan	-	-	-	-	argininemia	response dietary therapy good	ARG1	ARG1	1	1	Johan den Dunnen
00108484	-	PubMed: Uchino 1992	-	-	-	Japan	-	-	-	-	argininemia	psychomotor retardation and spastic tetraplegia	ARG1	ARG1	1	1	Johan den Dunnen
00108485	patient	PubMed: Uchino 1992	-	-	-	Japan	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00108486	patient	PubMed: Grody 1992	-	-	-	(United States)	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00108487	patient	PubMed: Grody 1992	-	-	-	(United States)	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404547	PatMO	PubMed: Vockley 1994	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404548	PatBR	PubMed: Vockley 1994	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404566	PatMU/RH	PubMed: Vockley 1994	family, 2 affected sibs	-	-	United States	-	-	-	-	argininemia	-	ARG1	ARG1	1	2	Johan den Dunnen
00404567	PatDC	PubMed: Vockley 1994	individual from incestuous union	-	yes	Mexico	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404569	PatTD	PubMed: Klein 1991	-	-	-	United States	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404570	family	PubMed: Vockley 1996	3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	no	United States	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404571	patient	PubMed: Vockley 1996	-	-	-	United States	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404574	patient	PubMed: Edwards 2009	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	Hispanic	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404575	family	PubMed: Hertecant 2009	family, 3 affected children, unaffected heterozygous carrier parents	-	-	United Arab Emirates	Pakistan	-	-	-	argininemia	-	ARG1	ARG1	1	3	Johan den Dunnen
00404576	patient	PubMed: Lee 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Korea	-	-	-	-	argininemia	see paper; ..., argininemia, progressive spastic diplegia	ARG1	ARG1	2	1	Johan den Dunnen
00404577	Pat8	PubMed: Jain-Ghai 2011	2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents	M	yes	Iraq	-	-	-	-	argininemia	see paper; ..., 6w-lethargy, poor feeding, severe encephalopathy caused by hyperammonemia; cerebral edema, seizures, spasticity, mild developmental delay	ARG1	ARG1	1	1	Johan den Dunnen
00404578	FamPat2	PubMed: Jain-Ghai 2011	2-generation family, 3 affected sibs, unaffected parents	F	-	Canada	-	-	-	-	argininemia	see paper; ..., learning difficulties, spastic diplegia, controlled seizures,mild recurrent hyperammonemic episodes	ARG1	ARG1	1	3	Johan den Dunnen
00404579	FamPat3	PubMed: Jain-Ghai 2011	sister	F	-	Canada	-	-	-	-	argininemia	see paper; ..., learning difficulties, spastic diplegia, seizures, recurrent hyperammonemic episodes	ARG1	ARG1	1	1	Johan den Dunnen
00404580	FamPat4	PubMed: Jain-Ghai 2011	sister	F	-	Canada	-	-	-	-	argininemia	see paper; ..., developmental delay, spastic diplegia, seizures, recurrent hyperammonemic episodes	ARG1	ARG1	1	1	Johan den Dunnen
00404581	Pat5	PubMed: Jain-Ghai 2011	-	F	-	Canada	-	-	-	-	argininemia	see paper; ..., severe developmental delay, spastic diplegia, no seizures, no hyperammonemic episodes	ARG1	ARG1	2	1	Johan den Dunnen
00404582	Pat6	PubMed: Jain-Ghai 2011	-	F	-	Canada	-	-	-	-	argininemia	see paper; ..., learning difficulties, spastic diplegia, no seizures, recurrent hyperammonemic episodes	ARG1	ARG1	1	1	Johan den Dunnen
00404583	Pat7	PubMed: Jain-Ghai 2011	-	F	-	Canada	-	-	-	-	argininemia	see paper; ..., learning difficulties, spastic diplegia, seizures, two hyperammonemic episodes	ARG1	ARG1	2	1	Johan den Dunnen
00404584	patient;Pat5	PubMed: Scholl-Burgi 2008, PubMed: Huemer 2016	-	M	-	Austria	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404585	patient	PubMed: Schiff 2009	-	F	-	France	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404586	patient	PubMed: Segawa 2011	-	F	no	Japan	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404588	patient	PubMed: Cui 2020, PubMed: Cui 2021	-	M	-	China	-	-	-	-	argininemia	see paper; ..., spastic paraplegia, weakness bilateral lower limbs, tip-toeing gait	ARG1	ARG1	2	1	Johan den Dunnen
00404589	patient	PubMed: Bakirtzis 2021	-	M	-	Greece	-	-	-	-	argininemia	see paper; ..., spastic gait, intellectual disability, seizures	-	ARG1	1	1	Johan den Dunnen
00404590	Pat1	PubMed: Dorum 2021	-	M	-	Turkey	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404591	Pat2	PubMed: Dorum 2021	-	F	-	Turkey	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404592	Pat3	PubMed: Dorum 2021	-	M	-	Turkey	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404593	Pat4	PubMed: Dorum 2021	-	M	-	Turkey	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404594	Pat5	PubMed: Dorum 2021	-	M	-	Turkey	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404595	Pat6	PubMed: Dorum 2021	-	M	-	Turkey	-	-	-	-	argininemia	-	ARG1	ARG1	1	1	Johan den Dunnen
00404596	patient	PubMed: Elsayed 2020	7-generation family, affected (2F, 4M)	F;M	yes	Sudan	-	-	-	-	argininemia	-	ARG1	ARG1	1	6	Johan den Dunnen
00404599	patient	PubMed: Yucel 2018	-	-	-	Turkey	-	-	-	-	argininemia	-	ARG1	ARG1	2	1	Johan den Dunnen
00404600	Pat1	PubMed: Diez-Fernandez 2018	-	-	-	-	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404601	Pat9	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	Kurdish	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404602	Pat11c	PubMed: Diez-Fernandez 2018	-	-	-	Guatemala	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404603	Pat11d	PubMed: Diez-Fernandez 2018	-	-	-	India	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404604	Pat15d	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404605	Pat20	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404606	Pat22	PubMed: Diez-Fernandez 2018	-	-	-	-	Arab	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404607	Pat25d	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404608	Pat25f	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404609	Pat25g	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404610	Pat25p	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404611	Pat26	PubMed: Diez-Fernandez 2018	-	-	-	Guatemala	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404612	Pat2-2e	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404613	Pat2-2f	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404614	Pat2-6b	PubMed: Diez-Fernandez 2018	-	-	-	France	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404615	Pat2-7	PubMed: Diez-Fernandez 2018	-	-	-	India	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404616	Pat2-9a/b/c	PubMed: Diez-Fernandez 2018	family, 3 affected sibs	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	3	Johan den Dunnen
00404617	Pat2-12c	PubMed: Diez-Fernandez 2018	-	-	-	Guatemala	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	3	1	Johan den Dunnen
00404618	Pat2-12d	PubMed: Diez-Fernandez 2018	-	-	-	Guatemala	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404619	Pat2-17	PubMed: Diez-Fernandez 2018	-	-	-	India	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404620	Pat2-20a	PubMed: Diez-Fernandez 2018	-	-	-	India	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404621	Pat2-18b	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404622	Pat2-23	PubMed: Diez-Fernandez 2018	-	-	-	India	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404623	Pat2-27	PubMed: Diez-Fernandez 2018	-	-	-	Afghanistan	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404624	Pat2-32a	PubMed: Diez-Fernandez 2018	-	-	-	Algeria	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404625	Pat2-32b	PubMed: Diez-Fernandez 2018	-	-	-	Algeria	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404626	Pat2-34a	PubMed: Diez-Fernandez 2018	-	-	-	Turkey	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404627	patient	PubMed: Amayreh 2014	-	-	-	Germany	Arab	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404628	Pat11	PubMed: Carvalho 2012	-	-	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404629	Pat1	PubMed: Carvalho 2012	family, affected monozygotic twin brothers	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	2	Johan den Dunnen
00404630	Pat2	PubMed: Carvalho 2012	twin	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404631	Pat3	PubMed: Carvalho 2012	family, 2 affected sibs	M	yes	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	2	Johan den Dunnen
00404632	Pat4	PubMed: Carvalho 2012	sib	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404633	Pat5	PubMed: Carvalho 2012	-	F	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404634	Pat6	PubMed: Carvalho 2012	-	F	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404635	Pat7	PubMed: Carvalho 2012	-	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404636	Pat8	PubMed: Carvalho 2012	-	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404637	Pat9	PubMed: Carvalho 2012	-	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404638	Pat10	PubMed: Carvalho 2012	-	F	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404639	Pat12	PubMed: Carvalho 2012	-	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404640	Pat13	PubMed: Carvalho 2012	-	F	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404641	Pat14	PubMed: Carvalho 2012	-	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404642	Pat15	PubMed: Carvalho 2012	-	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404643	Pat16	PubMed: Carvalho 2012	-	M	-	Brazil	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404644	patient	PubMed: Wu 2015	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404645	patient	PubMed: Wu 2015	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404646	Pat17	PubMed: Huemer 2016	-	-	-	-	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404647	Pat3	PubMed: Wu 2013	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404648	Pat2	PubMed: Wu 2013	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404649	Pat1	PubMed: Wu 2013	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404650	Pat4	PubMed: Wu 2013	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404651	Pat5	PubMed: Wu 2013	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	1	1	Johan den Dunnen
00404652	patient	Mullane 2017, PubMed: Diez-Fernandez 2018	family, 2 affected sibs	-	-	Australia	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	2	Johan den Dunnen
00404653	patient	Mullane 2017, PubMed: Diez-Fernandez 2018	sib	-	-	Australia	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404654	Pat1	PubMed: Zhang 2017	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen
00404655	Pat2	PubMed: Zhang 2017	-	-	-	China	-	-	-	-	argininemia	see paper; ...	ARG1	ARG1	2	1	Johan den Dunnen

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