Disease #01794 (HFI (fructose intolerance, hereditary (HFI)), OMIM:229600)

Official abbreviation	HFI
Name	fructose intolerance, hereditary (HFI)
OMIM ID	229600
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	200
Phenotype entries for this disease	200
Associated with 1 gene	ALDOB
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-07-24 17:50:42 +02:00 (CEST)

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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

200 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
00081029	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	HFI	Fructose intolerance (OMIM:229600)	ALDOB	ALDOB	1	1	Daniel Trujillano
00326213	patient	PubMed: Cross 1990	-	-	-	Switzerland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326214	patient	PubMed: Cross 1990	-	-	-	Switzerland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326215	patient	PubMed: Cross 1990	-	-	-	Switzerland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326216	patient	PubMed: Cross 1990	-	-	-	Switzerland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326217	patient	PubMed: Cross 1990	-	-	-	Switzerland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326218	patient	PubMed: Cross 1990	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326219	patient	PubMed: Cross 1990	-	-	-	Yugoslavia	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326220	patient	PubMed: Cross 1990	-	-	-	Italy	Sicily	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326221	Fam6	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	familial history of HFI, brother died after sucrose infusion	ALDOB	ALDOB	2	1	Johan den Dunnen
00326222	Fam2	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	aversion for sweet, vomiting after milk with sucrose jaundice, liver failure	ALDOB	ALDOB	2	1	Johan den Dunnen
00326223	Fam4	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	vomiting after milk with fructose hepatomegaly, elevated liver transaminases	ALDOB	ALDOB	2	1	Johan den Dunnen
00326224	Fam5	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	vomiting after orange juice aversion for sucrose milk, hepatomegaly	ALDOB	ALDOB	2	1	Johan den Dunnen
00326225	Fam7	PubMed: Davit-Spraul 2008	family, affected twins	-	-	France	-	-	-	-	-	HFI	aversion for sweet, hepatomegaly, diarrhea treated with oral sucrose formula: hypoglycaemia, elevated liver transaminases	ALDOB	ALDOB	2	1	Johan den Dunnen
00326226	Fam8	PubMed: Davit-Spraul 2008	family, 3 affected sibs	F;M	-	France	-	-	-	-	-	HFI	aversion for sweet, hepatomegaly, fatty liver	ALDOB	ALDOB	2	3	Johan den Dunnen
00326227	Fam9	PubMed: Davit-Spraul 2008	family, affected twins	-	-	France	-	-	-	-	-	HFI	aversion for sweet, hypoglycemia after oral sucrose formula	ALDOB	ALDOB	2	2	Johan den Dunnen
00326228	Fam10	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	vomiting after sucrose food, hepatomegaly, elevated liver transaminases	ALDOB	ALDOB	2	1	Johan den Dunnen
00326229	FamPatII1	PubMed: Dazzo 1990	2-generation family, 1 affected, unaffected parents	F	-	United States	-	-	-	-	-	HFI	abdominal pain, indigestion, lassitude, intolerant sweet foods/fruits	ALDOB	ALDOB	2	1	Johan den Dunnen
00326230	Pat1	PubMed: Sebastio 1991	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326231	Pat5	PubMed: Sebastio 1991	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326232	Pat9	PubMed: Sebastio 1991	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326233	patient	PubMed: Ali 1994	3-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	Europe;Cherokee/Karok indian	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326234	patient	PubMed: Ali 1994	2-generation family, 2 affected, unaffected heterozygous carrier parents	-	-	Austria	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	2	Johan den Dunnen
00326235	patient	PubMed: Ali 1994	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	France	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326236	patient	PubMed: Santamaria 1999	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326237	Fam1PatIII20/21/22/23	PubMed: Ali 1995	5-generation family, 10 affected (5F, 5M)	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	10	Johan den Dunnen
00326238	FamPatIV1	PubMed: Ali 1995	5-generation family, 10 affected (5F, 5M)	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326239	Fam1PatIII33/34/35/36/IV16	PubMed: Ali 1995	5-generation family, 10 affected (5F, 5M)	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	5	Johan den Dunnen
00326240	PatF13	PubMed: Cross 1990	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326241	PatG10	PubMed: Cross 1990	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326242	FamPatSR	PubMed: Esposito 2010	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	2	Johan den Dunnen
00326243	FamPat	PubMed: Esposito 2010	2-generation family, affected parent	F	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326244	patient	PubMed: Esposito 2010	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326245	patient	PubMed: Esposito 2010	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326246	patient	PubMed: Esposito 2004, PubMed: Esposito 2010	-	F	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326247	patient	PubMed: Esposito 2004, PubMed: Esposito 2010	analysis 122 patients	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326248	patient	PubMed: Esposito 2004, PubMed: Esposito 2010	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326249	patient	PubMed: Esposito 2004, PubMed: Esposito 2010	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326250	patient	PubMed: Esposito 2004, PubMed: Esposito 2010	analysis 122 patients	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326251	patient	PubMed: Esposito 2004, PubMed: Esposito 2010	analysis 122 patients	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326252	Pat8	PubMed: Santamaria 1996	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326253	Pat9	PubMed: Santamaria 1996	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326254	Pat11	PubMed: Santamaria 1996	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326255	Pat12	PubMed: Santamaria 1996	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326256	patient	PubMed: Ali 1998	-	-	-	Switzerland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326257	patient	PubMed: Ali 1998	-	-	-	Finland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326258	family	PubMed: Ali 1994	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	2	Johan den Dunnen
00326259	patient	PubMed: Brooks 1994	-	-	-	United States	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326260	patient	PubMed: Ali 1996	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	-	-	New Zealand	-	-	-	-	-	HFI	weaning difficulties, hypoglycaemic symptoms, dietary intolerance, lack of dental caries	ALDOB	ALDOB	2	2	Johan den Dunnen
00326261	Pat3	PubMed: Santamaria 1996	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326262	patient	PubMed: Santamaria 1996	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326263	Pat5	PubMed: Santamaria 1996	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326264	Fam1	PubMed: Sanchez-Gutierrez 2002	2-generation family, 2 affected	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	2	Johan den Dunnen
00326265	Fam3	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326266	Fam8	PubMed: Sanchez-Gutierrez 2002	2-generation family, 2 affected	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	2	Johan den Dunnen
00326267	Fam11	PubMed: Sanchez-Gutierrez 2002	2-generation family, 2 affected	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	2	Johan den Dunnen
00326268	Fam16	PubMed: Sanchez-Gutierrez 2002	2-generation family, 2 affected	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	2	Johan den Dunnen
00326269	Fam17	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326270	Fam18	PubMed: Sanchez-Gutierrez 2002	2-generation family, 3 affected	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	3	Johan den Dunnen
00326271	Fam71F	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326272	Fam468F	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326273	Fam529F	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326274	-	PubMed: Santer 2005	2-generation family, father A150P homozygot	-	-	Germany	Europe Central	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326275	-	PubMed: Gruchota 2006	family	-	-	Poland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326276	-	PubMed: Gruchota 2006	family	-	-	Poland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326277	-	PubMed: Gruchota 2006	family	-	-	Poland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326278	-	PubMed: Gruchota 2006	family	-	-	Poland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326279	-	PubMed: Gruchota 2006	family	-	-	Poland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326280	-	PubMed: Gruchota 2006	family	-	-	Poland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326281	-	PubMed: Gruchota 2006	family	-	-	Poland	-	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326282	-	PubMed: Coffee 2010	Pat50	-	-	United States	white	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326283	-	PubMed: Coffee 2010	Pat278	-	-	United States	white, Hispanic	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326284	-	PubMed: Coffee 2010	Pat295	-	-	United States	Hispanic, African American	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326285	-	PubMed: Coffee 2010	Pat284	-	-	United States	African American	-	-	-	-	HFI	-	ALDOB	ALDOB	2	1	Johan den Dunnen
00326286	patient	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326287	patients	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	2	Johan den Dunnen
00326288	-	PubMed: Santer 2005	-	-	-	-	Europe Central	-	-	-	-	HFI	-	ALDOB	ALDOB	1	2	Johan den Dunnen
00326289	-	PubMed: Santer 2005	-	-	-	-	Europe Central	-	-	-	-	HFI	-	ALDOB	ALDOB	1	2	Johan den Dunnen
00326290	-	PubMed: Santer 2005	-	-	-	-	Europe Central	-	-	-	-	HFI	-	ALDOB	ALDOB	1	11	Johan den Dunnen
00326291	-	PubMed: Santer 2005	family	F	-	Germany	Europe Central	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326292	patient	PubMed: Esposito 2010	-	-	-	Italy	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	2	Johan den Dunnen
00326293	patient	PubMed: Cross 1990	-	-	-	Italy	Sicily	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326294	patient	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326295	patient	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326296	patients	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	2	Johan den Dunnen
00326297	patients	PubMed: Davit-Spraul 2008	-	-	-	France	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	2	Johan den Dunnen
00326298	PatG12	PubMed: Cross 1990	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326299	Fam2	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326300	Fam5	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326301	Fam6	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326302	Fam7	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326303	Fam12	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326304	Fam13	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326305	Fam19	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326306	Fam210F	PubMed: Sanchez-Gutierrez 2002	-	-	-	Spain	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326307	-	PubMed: Santer 2005	family	M	-	Turkey	Europe Central	-	-	-	-	HFI	-	ALDOB	ALDOB	1	2	Johan den Dunnen
00326308	patient	PubMed: Cross 1988	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326309	patient	PubMed: Cross 1990	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326310	patient	PubMed: Cross 1990	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen
00326311	patient	PubMed: Cross 1990	-	-	-	France	-	-	-	-	-	HFI	-	ALDOB	ALDOB	1	1	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

GTPBP3 (GTP binding protein 3 (mitochondrial))