Disease #01849 (NAGSD (deficiency, N-acetylglutamate synthase (NAGSD)), OMIM:237310)

Official abbreviation	NAGSD
Name	deficiency, N-acetylglutamate synthase (NAGSD)
OMIM ID	237310
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	52
Phenotype entries for this disease	51
Associated with 1 gene	NAGS
Associated tissues	-
Disease features	autosomal recessive
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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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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>=	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
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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Example	Matches
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52 entries on 1 page. Showing entries 1 - 52.

Legend

How to query

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
00058532	Fam1a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	Switzerland	-	-	-	-	-	NAGSD	vomiting, poor feeding, episodic confusion as neonate	NAGS	NAGS	2	1	Johannes Häberle
00058577	pat3	PubMed: Caldovic 2005	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	33y	-	-	-	NAGSD	transient coma at y5	NAGS	NAGS	2	1	Johannes Häberle
00058578	Fam1	PubMed: Schmidt 2005	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	France	-	-	-	-	-	NAGSD	hypotonia at 2.5m, later hepatomegaly, failure to thrive, hyperammonemia	NAGS	NAGS	1	1	Johannes Häberle
00058579	Fam1	PubMed: Schmidt 2005	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	France	-	-	-	-	-	NAGSD	hypotonia, developmental delay	NAGS	NAGS	1	1	Johannes Häberle
00058580	-	PubMed: Caldovic 2007	-	-	-	United States	-	-	-	-	-	NAGSD	heterozygous mutation reported in a control sample. No further information	NAGS	NAGS	1	1	Johannes Häberle
00058581	Fam5a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	neonatal hyperammonemia	NAGS	NAGS	1	1	Johannes Häberle
00058582	Fam6a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	vomitting, failure to thrive, hepatomegaly, recurrent asymptomatic hyperammonemia, normal at y5 with benzoate, citrulline and protein restriction	NAGS	NAGS	1	1	Johannes Häberle
00058583	-	PubMed: Häberle 2003, PubMed: Plecko 1998	-	-	-	-	-	-	-	-	-	NAGSD	vomitting, hypotonia, somnolence at 24y normal cognitive function NCG-treated	NAGS	NAGS	1	1	Johannes Häberle
00058584	Fam8a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	2-generation family, 4 affected, unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	NAGSD	late-onset and mild course Normal outcome without NCG	NAGS	NAGS	1	4	Johannes Häberle
00058585	-	PubMed: Caldovic 2007	-	-	-	United States	-	-	-	-	-	NAGSD	onset at y27, during pregnancy, with seizures and coma	NAGS	NAGS	2	1	Johannes Häberle
00058586	-	PubMed: Caldovic 2007	-	-	-	United States	-	-	-	-	-	NAGSD	late-onset with migraine, nausea, vomitting, lethargy, ataxia and coma normal at 57y	NAGS	NAGS	2	1	Johannes Häberle
00058587	Fam11a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	severe hyperammonemia stable at 6m with NCG treatment, death after stopping NCG elder brother died at 2y (no material or diagnosis)	NAGS	NAGS	2	1	Johannes Häberle
00058588	Fam12a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	UTI, somnolence, decreased conscience, peak ammonia 350 umol/l normal outcome	NAGS	NAGS	1	1	Johannes Häberle
00058590	-	-	-	F	-	Belarus	-	-	-	-	-	NAGSD	Hyperammonemia, NH3=203 umol/l, presenting at age 10y; no mental retardation	-	-	-	1	Nicholas Ah Mew
00058593	-	PubMed: Haberle 2003, PubMed: Caldovic 2007, PubMed: Plecko 1998	-	-	-	(Germany)	-	-	-	-	-	NAGSD	atypically late onset of hyperammonemia	-	-	-	1	Johan den Dunnen
00058596	-	PubMed: Haberle 2003	-	-	-	(Germany)	-	-	-	-	-	NAGSD	neonatally fatal hyperammonemia	-	-	-	1	Johan den Dunnen
00058597	-	PubMed: Caldovich 2003	-	-	-	Faroe Islands	-	-	-	-	-	NAGSD	died in neonatal period with hyperammonemia	-	-	-	1	Johan den Dunnen
00058598	-	PubMed: Haberle 2003	-	-	-	Turkey	-	-	-	-	-	NAGSD	died from hyperammonemia	-	-	-	1	Johan den Dunnen
00058599	-	PubMed: Caldovich 2003	two sisters	F	-	United States	Hispanic	-	-	-	-	NAGSD	acute neonatal hyperammonemia	-	-	-	2	Johan den Dunnen
00058603	-	PubMed: Haberle 2003, PubMed: Caldovic 2007	-	-	-	(Germany)	-	-	-	-	-	NAGSD	died from neonatal hyperammonemia	-	-	-	1	Johan den Dunnen
00058604	-	PubMed: Haberle 2003, PubMed: Caldovic 2007	-	-	-	(Germany)	-	-	-	-	-	NAGSD	died neonatal hyperammonemia	-	-	-	1	Johan den Dunnen
00058605	-	PubMed: Haberle 2003, PubMed: Caldovic 2007	-	-	-	(Germany)	-	-	-	-	-	NAGSD	died from neonatal hyperammonemia	-	-	-	1	Johan den Dunnen
00060216	Fam2	PubMed: Schmidt 2005	2-generation family, 2 affected, unaffected heterozygous carrier parents	?	-	Algeria	-	-	-	-	-	NAGSD	poor feeding, seizures, lethargy younger sibling: NCG-treated before symptoms developed	NAGS	NAGS	1	2	Johannes Häberle
00060217	Fam14a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	?	-	-	-	00y00m20d	-	-	-	NAGSD	vomiting, lethargy, no NCG	NAGS	NAGS	1	1	Johannes Häberle
00060218	-	PubMed: Nordenstrom 2007	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	?	-	Sweden	-	-	-	-	-	NAGSD	poor feeding, somnolence, seizures, normal psychomotor development at 2.5y younger sibling: NCG-treated before symptoms developed	NAGS	NAGS	1	2	Johannes Häberle
00060219	Fam19a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	?	-	-	-	00y00m05d	-	-	-	NAGSD	neonatal onset died at d5 with hyperammonemia	NAGS	NAGS	1	1	Johannes Häberle
00060220	-	PubMed: Caldovic 2005	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	NAGSD	vomiting, irritability, lethargy, many hyperammonemic episodes, normal cognitive development Sibling: onset at 9y, lethargy, anorexia, vomiting, seizures	NAGS	NAGS	2	2	Johannes Häberle
00060221	Fam27a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	?	-	-	-	-	-	-	-	NAGSD	Reye-like syndrome at 16y with hyperammonemia normal outcome	NAGS	NAGS	1	1	Johannes Häberle
00060222	-	PubMed: Schmidt 2005	2-generation family, 1 affected, unaffected heterozygous carrier parents	?	-	Turkey	-	-	-	-	-	NAGSD	hypotonia, poor feeding, lethargy	NAGS	NAGS	1	1	Johannes Häberle
00060223	Fam5	PubMed: Schmidt 2005	2-generation family, 1 affected, unaffected heterozygous carrier parents	?	-	Turkey	-	-	-	-	-	NAGSD	convulsions and microcephaly at 4y	NAGS	NAGS	1	1	Johannes Häberle
00060224	Fam2	PubMed: Haberle2004	-	?	-	Turkey	-	00y00m01d	-	-	-	NAGSD	neonatal death with hyperammonemic coma	NAGS	NAGS	1	1	Johannes Häberle
00060225	-	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	?	-	-	-	00y00m03d	-	-	-	NAGSD	hyperammonemic coma	NAGS	NAGS	1	1	Johannes Häberle
00060226	-	PubMed: Häberle 2003, PubMed: Häberle 2003	-	?	-	-	-	00y00m06d	-	-	-	NAGSD	hyperammonemic encephalopathy	NAGS	NAGS	2	1	Johannes Häberle
00060227	Fam35b	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	2-generation family, 2 affected	?	-	-	-	00y00m07d	-	-	-	NAGSD	hyperammonemic coma, death on 7d sibling: neonatal onset, hyperammonemic coma, death on 19d	NAGS	NAGS	1	2	Johannes Häberle
00060228	-	PubMed: Elpeleg 2002	2-generation family, affected twin brotehs, unaffected heterozygous carrier parents	M	yes	Iran	Jewish	-	-	-	-	NAGSD	treated but unstable until NCG started at 36m, suffers neurological sequelae Sibling: prospective treatment from birth, but NCG only started at 3m, suffers neurological sequelae	NAGS	NAGS	1	2	Johannes Häberle
00060229	Fam38b	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	no clinical information	?	-	-	-	-	-	-	-	NAGSD	-	NAGS	NAGS	1	1	Johannes Häberle
00248284	Fam1	PubMed: Haberle 2004	prenatal diagnosis, fetus affected	-	-	Faroe Islands	-	-	-	-	-	NAGSD	see paper; …	NAGS	NAGS	1	1	Johan den Dunnen
00248296	Fam39b	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	2d-hyperammonemia requiring dialysis; alive under treatment including NCG	NAGS	NAGS	1	1	Johan den Dunnen
00248297	Fam40b	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	2-generation family, 2 affected	-	-	-	-	-	-	-	-	NAGSD	Index: 2d-vomiting, feeding problems, hyperammonemia was diagnosed and treated with hemodiafiltration; 1y-normal development under treatment with NCG Elder sibling: onset first few days, death in early neonatal period, no ammoniameasurements done	NAGS	NAGS	1	2	Johan den Dunnen
00248298	Fam41b	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	neonatal onset with hyperammonemia (max. 368 μmol/L), metabolically stable with NCG	NAGS	NAGS	1	1	Johan den Dunnen
00248299	-	PubMed: Caldovich 2003, OMIM:var0002	2-generation family, 2 affected	-	-	-	-	-	-	-	-	NAGSD	Index: 4d-onset; 22d-death hyperammonemic encephalopathy: Sibling: 2d-onset, treated but unstable until NCG started at 3m; 13y-normal neurological status	NAGS	NAGS	1	2	Johannes Häberle
00248300	-	PubMed: Haberle 2003, OMIM:var0002	-	-	-	-	-	-	-	-	-	NAGSD	1d-onset; 4d-death	NAGS	NAGS	1	1	Johannes Häberle
00248301	-	PubMed: Caldovich 2003, OMIM:var0001	2-generation family, 2 affected	-	-	-	-	-	-	-	-	NAGSD	Index: 2d-onset; 8m-liver transplantation, no information on neurological status: Sibling: 2d-onset	NAGS	NAGS	1	2	Johannes Häberle
00248302	-	PubMed: Haberle 2003, PubMed: Caldovic 2007, OMIM:var0006	-	-	-	-	-	-	-	-	-	NAGSD	2d-onset, hyperammonemic encephalopathy; 4d-death with cerebral edema	NAGS	NAGS	1	1	Johannes Häberle
00248303	Fam17a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	neonatal onset	NAGS	NAGS	1	1	Johannes Häberle
00248304	-	PubMed: Haberle 2003, PubMed: Caldovic 2007, OMIM:var0008	-	-	-	-	-	-	-	-	-	NAGSD	6d-onset, poor feeding, lethargy; 3m-death	NAGS	NAGS	1	1	Johannes Häberle
00248305	Fam20a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	2-generation family, 3 affected	-	-	-	-	-	-	-	-	NAGSD	Index: 3d-onset hyperammonemic coma; 6m-death: Sibling and relative: genetic demonstration and NCG treated before symptoms developed	NAGS	NAGS	1	3	Johannes Häberle
00248306	Fam21a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	2d-onset, poor feeding, seizures; psychomotor delay and spasticity, NCG treatment	NAGS	NAGS	1	1	Johannes Häberle
00248307	Fam22a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	neonatal onset with hyperammonemia	NAGS	NAGS	1	1	Johannes Häberle
00248308	Fam23a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	3d-onset, standard treatment for hyperammonemia without NCG; 22m-alive while treated	NAGS	NAGS	1	1	Johannes Häberle
00248309	Fam24a	PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016	-	-	-	-	-	-	-	-	-	NAGSD	neonatal onset with hyperammonemia	NAGS	NAGS	1	1	Johannes Häberle
00248310	-	PubMed: Van Leynseele 2014	-	-	-	Belgium	-	-	-	-	-	NAGSD	1m-hyperammonemia; 22m-diagnosed while under treatment with diet and NCG	NAGS	NAGS	1	1	Johannes Häberle

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How to query

Global Variome shared LOVD

DOK7 (docking protein 7)