Disease #02144 (AHC (adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism)), OMIM:300200)

Official abbreviation	AHC
Name	adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism)
OMIM ID	300200
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	154
Phenotype entries for this disease	142
Associated with 1 gene	NR0B1
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

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

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

	Legend	How to query	« First	‹ Prev		1	2		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
00029662	-	PubMed: Carrie 1999	-	M	-	-	-	-	-	-	-	AHC, MRT	-	IL1RAPL1, NR0B1	IL1RAPL1, NR0B1	2	1	Johan den Dunnen
00029663	-	PubMed: Carrie 1999	-	M	-	-	-	-	-	-	-	AHC, GKD, ID	-	GK, IL1RAPL1, NR0B1	GK, IL1RAPL1, NR0B1	3	1	Johan den Dunnen
00029664	-	PubMed: Carrie 1999	-	M	-	-	-	-	-	-	-	AHC, ID	-	IL1RAPL1, NR0B1	IL1RAPL1, NR0B1	2	1	Johan den Dunnen
00029665	-	PubMed: Carrie 1999	-	M	-	-	-	-	-	-	-	AHC, ID	-	IL1RAPL1, NR0B1	IL1RAPL1, NR0B1	2	1	Johan den Dunnen
00034400	-	PubMed: Hellerud 2003	-	M	-	Poland	-	-	-	-	-	AHC, GKD	-	DMD	DMD	1	1	Johan den Dunnen
00034401	-	PubMed: Hellerud 2003	-	M	-	Poland	-	-	-	-	-	AHC, GKD	-	DMD	DMD	1	1	Johan den Dunnen
00034402	-	PubMed: McCabe 1989	-	M	-	United States	-	-	-	-	-	AHC, GKD	dystrophic myopathy	DMD	DMD	1	1	Johan den Dunnen
00034404	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034405	-	PubMed: Zhang 2004	-	M	-	-	-	-	-	-	-	AHC, DMD, GKD, MRX;IDX	intellectual disability (HP:0001249)	DMD, GK, IL1RAPL1, NR0B1	DMD	1	1	Johan den Dunnen
00034406	-	PubMed: Zhang 2004	-	M	-	-	-	-	-	-	-	AHC, GKD, MRX;IDX	intellectual disability (HP:0001249)	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034407	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034408	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034411	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	ARX, DMD, GK, IL1RAPL1, NR0B1	ARX, DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034412	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034413	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034414	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034415	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034418	-	PubMed: Piko 2009	analysis 135 BMD/DMD cases	?	-	Hungary	-	-	-	-	-	AHC, GKD, MRX;IDX	-	DMD, GK, IL1RAPL1, NR0B1	DMD, GK, IL1RAPL1, NR0B1	1	1	Johan den Dunnen
00034422	-	PubMed: Chelly 1988, UMD 727 database	mother carrier	M	-	(France)	-	22y	-	-	-	AHC, GKD, MRX;IDX	poor psychomotor development, IQ45; 9m-biopsy numerous necrotic muscle fibers, foci regenerating fibers, discrete type 1 fiber predominance, marked increase collagen endomysial tissue	DMD	DMD	1	2	Johan den Dunnen
00049063	-	L Medne ASHG 2010 A1669	-	M	-	-	-	-	-	-	-	AHC, GKD	, hyponatremia, adrenal insufficiency, hyperCKemia; phenotype/onset: seizures; elevated serum CPK (HP:0003236)	DMD	DMD	1	1	Johan den Dunnen
00112403	-	PubMed: Guo 1995	-	-	-	-	-	-	-	-	-	AHC	phenotype inlcudes GKD; adrenal hypoplasia, congenital (OMIM300200);Glycerol kinase deficiency	NR0B1	GK, NR0B1	1	1	Bert Bakker
00112404	-	PubMed: Guo 1995	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112405	09195207-Pat3	PubMed: Kinoshita 1997	-	M	-	Japan	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112406	-	PubMed: Ozisik 2003	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112408	-	PubMed: Binder 2000	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112409	-	PubMed: Meloni 1996	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112410	-	-	-	M	-	Netherlands	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112411	-	PubMed: Hamaguchi 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112412	-	PubMed: Nakae 1997; OMIM:var0015	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112413	-	PubMed: Zhang 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112414	-	PubMed: Nakae 1996; OMIM:var0011	2 sibs	M	-	Japan	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112415	-	PubMed: Muscatelli 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112416	-	PubMed: Muscatelli 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112417	-	PubMed: Phelan 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112418	-	PubMed: Zhang 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112419	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112420	09195207-Fam1Pat1	PubMed: Kinoshita 1997	3-generation fmily, 6 affecteds (6M), 2 unaffected heterozygous carrier females	M	-	Japan	-	-	-	-	-	AHC	-	NR0B1	NR0B1	2	6	Bert Bakker
00112421	-	PubMed: Peter 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112422	-	PubMed: Domenice 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112423	-	-	-	M	-	Netherlands	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112424	-	PubMed: Reutens 1999	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112425	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112426	-	PubMed: Binder 2000	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112427	-	PubMed: Phelan 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112428	-	PubMed: Zhang 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112429	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112430	-	PubMed: Peter 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112431	-	PubMed: Binder 2000	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112433	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112434	-	PubMed: Reutens 1999	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112435	-	PubMed: Zhang 1998	-	M	-	United States	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112436	-	PubMed: Yanase 1996; OMIM:var0006	-	M	-	Korea	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112437	-	PubMed: Muscatelli 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112438	-	PubMed: Zhang 1998	-	M	-	Japan	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112439	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112440	-	PubMed: Zanaria 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112441	-	PubMed: Peter 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112442	-	PubMed: Bassett 1999	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112443	-	PubMed: Muscatelli 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112444	-	PubMed: Muscatelli 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112445	-	-	-	M	-	Netherlands	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112446	-	PubMed: Peter 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112447	-	PubMed: Caron 1999	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112448	09195207-Pat4	PubMed: Kinoshita 1997	-	M	-	Japan	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112449	-	PubMed: Zhang 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112450	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112451	-	PubMed: Reutens 1999	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112452	-	PubMed: Muscatelli 1994; OMIM:var0005	-	M	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112453	-	PubMed: Zanaria 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112454	-	PubMed: Zhang 1998	-	M	-	United States	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112455	-	-	-	M	-	Netherlands	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112456	-	-	-	M	-	Netherlands	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112457	-	PubMed: Zanaria 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112458	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112459	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112460	-	PubMed: Phelan 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112461	-	PubMed: Achermann 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112462	-	PubMed: Muscatelli 1994; OMIM:var0003	-	-	-	-	-	-	-	-	-	AHC	onset 8d	NR0B1	NR0B1	1	1	Bert Bakker
00112463	-	PubMed: Muscatelli 1994; OMIM:var0004	2 brothers	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	2	Bert Bakker
00112464	-	PubMed: Muscatelli 1994	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112465	-	PubMed: Zhang 1998	-	M	-	United States	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112466	-	PubMed: Nakae 1996; OMIM:var0010	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112467	-	PubMed: Bassett 1999	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112468	-	PubMed: Yanase 1996; OMIM:var0007	-	M	-	Japan	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112469	-	PubMed: Muscatelli 1994; OMIM:var0001	-	M	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112470	-	PubMed: Franzese 2005	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112471	-	PubMed: Nakae 1997; OMIM:var0017	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112472	-	PubMed: Zhang 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112473	-	PubMed: Brown 2003	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112474	-	PubMed: Achermann 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112475	-	PubMed: Takahashi 1997	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112476	-	PubMed: Zhang 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112477	-	PubMed: Nakae 1996; OMIM:var0013	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112478	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112479	-	PubMed: Habiby 1996	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112480	09195207-Fam2Pat2	PubMed: Kinoshita 1997	3-generation family, 1 affected	M	-	Japan	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112481	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112482	-	PubMed: Muscatelli 1994; OMIM:var0002	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112483	-	PubMed: Zhang 1998	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker
00112484	-	PubMed: Zhang 2001	-	-	-	-	-	-	-	-	-	AHC	-	NR0B1	NR0B1	1	1	Bert Bakker

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Global Variome shared LOVD

GBE1 (glucan (1,4-alpha-), branching enzyme 1)