Disease #01663 (aciduria, argininosuccinic (argininosuccinate lyase deficiency), OMIM:207900)

Official abbreviation	-
Name	aciduria, argininosuccinic (argininosuccinate lyase deficiency)
OMIM ID	207900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	44
Phenotype entries for this disease	6
Associated with 1 gene	ASL
Associated tissues	-
Disease features	autosomal recessive
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:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

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
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bosnia and Herzegovina
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Botswana
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Bouvet Island
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Brazil
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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
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
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Cyprus
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Czech Republic
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Denmark
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England
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Estonia
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Ethiopia
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Guam
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Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
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Haiti
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Honduras
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Hong Kong
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Hungary
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India
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Indonesia
(Indonesia)
Iran
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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
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Lebanon
(Lebanon)
Lesotho
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Liberia
(Liberia)
Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Mayotte
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Monaco
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Mongolia
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nauru
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Nepal
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Netherlands
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Netherlands Antilles
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
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Oman
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Panama
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Paraguay
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Peru
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Philippines
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Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
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Russia
(Russia)
Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
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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
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Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
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South Africa
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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
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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
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Thailand
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Togo
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Tokelau
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Tonga
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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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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

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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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44 entries on 1 page. Showing entries 1 - 44.

Legend

How to query

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
00080936	-	Trujillano et al., submitted	unaffected parents	-	-	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	Argininosuccinic aciduria (OMIM:207900)	ASL	ASL	1	1	Daniel Trujillano
00108488	-	-	-	-	-	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108489	-	-	-	M	-	Morocco	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108490	-	-	-	-	-	Poland	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108491	-	-	-	M	-	Italy	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108492	-	-	-	-	-	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108493	-	-	-	-	-	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108494	-	-	-	-	yes	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	late-onset	ASL	ASL	2	1	Johan den Dunnen
00108496	-	-	-	F	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108497	-	-	-	M	-	Germany	Egyptian	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108498	-	-	-	-	-	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108499	-	-	-	F	-	-	Arabic	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108500	-	-	-	F	-	-	Arabic	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108501	-	-	-	F	-	-	Arabic	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108502	-	-	-	F	-	Turkey	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108503	-	-	-	F	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108504	-	-	-	F	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108505	-	-	-	M	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108506	-	-	-	F	-	Bulgaria	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108507	-	-	-	M	-	China	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108508	-	-	-	M	-	Czech Republic	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108509	-	-	-	M	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108510	-	-	-	F	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108511	-	-	-	M	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108512	-	-	-	M	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108513	-	-	-	M	-	Netherlands	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108514	-	-	-	M	-	China	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108515	-	-	-	M	-	Spain	Gypsy	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108518	-	-	-	M	-	Italy	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108519	-	-	-	-	-	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108522	-	-	-	M	-	Turkey	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108524	-	-	-	-	yes	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	neonatal-onset	ASL	ASL	2	1	Johan den Dunnen
00108525	-	-	-	-	yes	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108526	-	-	-	-	-	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108528	-	-	-	-	-	Turkey	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108529	-	-	-	F	-	Belgium	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108532	-	-	-	-	-	Turkey	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108533	-	-	-	M	-	Israel	Arabic	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108535	-	-	-	M	-	Lebanon	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108536	-	-	-	M	-	Finland	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108541	-	-	-	M	-	Israel	Arabic	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00108542	-	-	-	-	-	-	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	-	ASL	ASL	2	1	Johan den Dunnen
00248293	Fam11	PubMed: Häberle and Koch 2004	prenatal diagnosis, fetus affected	-	-	-	Druze	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	see paper; …	ASL	ASL	1	1	Johan den Dunnen
00248294	Fam12	PubMed: Häberle and Koch 2004	prenatal diagnosis, fetus not affected	-	-	Kuwait	-	-	-	-	aciduria, argininosuccinic (argininosuccinate lyase deficiency)	see paper; …	ASL	ASL	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD