All individuals with variants in gene IKBKG

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.

1645 entries on 17 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00001406	FamXL349	PubMed: Smahi 2000	2-generation family, 2 affected (2F)	F	?	-	-	-	-	-	-	IP	-	1	2	Francesca Fusco
00001409	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001412	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001414	FamXL352	PubMed: Smahi 2000	-	F	-	-	-	-	-	-	-	IP	incontinentia pigmenti	1	1	Francesca Fusco
00001417	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001418	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001419	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001420	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001421	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001422	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001424	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001425	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001426	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001427	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001428	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001430	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001431	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001432	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001433	FamXL374	PubMed: Aradhya 2001, PubMed: Aradhya 2001	3-generation family, 4 affected (4F), 3 spontaneous male abortions	F	no	-	-	-	-	-	-	IP	skin pigmentation, conical teeth, retinal detachment, alopecia, CNS problems	1	4	Francesca Fusco
00001435	FamXL320	PubMed: Aradhya 2001, PubMed: Aradhya 2001	3-generation family, 4 affected (3F, M), male died after 1d from hemorrhaging	F;M	no	-	-	-	-	-	-	IP	-	1	4	Francesca Fusco
00001436	FamXL213	PubMed: Aradhya 2001, PubMed: Aradhya 2001	2-generation family, affected mother/daughter, 1 spontaneous male abortion	F	-	-	-	-	-	-	-	IP	-	1	2	Francesca Fusco
00001439	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001440	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001441	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001442	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001443	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001444	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001445	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001446	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001447	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001448	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001449	-	PubMed: Fusco 2008	-	F	-	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001450	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001455	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001456	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001457	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001458	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001459	patient	PubMed: Martinez-Pomar 2005	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	?	Spain	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001460	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001461	PatKB	PubMed: Sebban-Benin 2007	-	F	-	France	-	-	-	-	-	IP	see paper; ..., severe incontinentia pigmenti	1	1	Francesca Fusco
00001462	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001463	FamXL203	PubMed: Smahi 2000	3-generation family, 4 affected (3F, M)	?	?	-	-	-	-	-	-	IP	incontinentia pigmenti, ectodermal dysplasia, immune deficiency	1	4	Francesca Fusco
00001464	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	ASD, IP	-	1	1	Francesca Fusco
00001465	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001466	FamHED-ID4PatIII1/2;Pat5/6	PubMed: Zonana 2000, PubMed: Orange 2004, PubMed: Fuleihan 1993	3-generation family, carrier female, 2 deceased male patients	M	?	United States	-	-	-	-	-	IMD	see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency	1	2	Francesca Fusco
00001467	IP85m	PubMed: Smahi 2000, PubMed: Doffinger 2001	3-generation family, patient, unaffected carrier mother	M	?	United Kingdom (Great Britain)	-	-	-	-	-	IP	see paper; ..., incontinentia pigmenti, osteopetrosis, lymphedema, ectodermal dysplasia, immune deficiency	1	1	Francesca Fusco
00001469	-	PubMed: Smahi 2000	-	?	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001471	IP-48	PubMed: Fusco 2012	-	F	?	Italy	-	-	-	-	-	ASD, IP	-	1	1	Francesca Fusco
00001472	IP-51	PubMed: Fusco 2012	-	F	?	Greece	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001473	IP-11	PubMed: Fusco 2012	-	F	?	Italy	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001474	IP-47	PubMed: Fusco 2012	-	F	?	Spain	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001475	IP-50	PubMed: Fusco 2012	-	F	?	Mexico	-	-	-	-	-	CHD, IP	-	1	1	Francesca Fusco
00001476	IP-14	PubMed: Fusco 2012	-	F	?	France	-	-	-	-	-	CHD, IP	-	1	1	Francesca Fusco
00001477	IP-43	PubMed: Fusco 2012	-	F	?	Spain	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001478	-	-	-	F	?	-	-	-	-	-	-	CHD, IP	-	1	1	Francesca Fusco
00001479	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001480	-	-	-	F	?	-	-	-	-	-	-	ASD, IP, VSD	-	1	1	Francesca Fusco
00001481	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001482	-	-	-	?	?	-	-	-	-	-	-	ASD, IP	-	1	1	Francesca Fusco
00001484	-	-	-	?	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001485	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001486	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001487	-	-	-	?	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001488	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001489	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001490	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001492	-	-	-	?	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001493	-	-	-	?	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001494	-	-	-	?	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001495	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001496	-	-	-	?	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001497	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001498	-	-	-	F	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00001499	-	-	-	?	?	-	-	-	-	-	-	IP	-	1	1	Francesca Fusco
00050693	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	drooling, unsteady gait, abnormal facial shape, lactose intolerance	1	1	Johan den Dunnen
00183135	25644381-FamMRX75/D13	PubMed: Hu 2016	family, 1 affected, 4 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	1	Johan den Dunnen
00250284	-	PubMed: Hamada 2010	-	-	-	Singapore	-	-	-	-	-	HAG	-	1	1	Johan den Dunnen
00250285	-	PubMed: Hirono 1995	-	-	-	Solomon Islands	-	-	-	-	-	HAG	-	1	1	Johan den Dunnen
00250304	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250312	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250331	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250337	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250342	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250370	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250373	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250374	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250378	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250384	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250387	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250399	-	Zou 2019, submitted	-	F	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250400	-	Zou 2019, submitted	-	F	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250406	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250430	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250432	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250449	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250455	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250478	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250483	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250502	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou
00250506	-	Zou 2019, submitted	-	M	-	China	Han (Fujian)	-	-	-	-	HAG	-	1	1	Lin Zou

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Global Variome shared LOVD

IKBKG (inhibitor of kappa light polypeptide gene en...)