Disease #00161 (IP (incontinentia pigmenti (IP)), OMIM:308300)

Official abbreviation	IP
Name	incontinentia pigmenti (IP)
OMIM ID	308300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked dominant
Individuals reported having this disease	140
Phenotype entries for this disease	61
Associated with 1 gene	IKBKG
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-06-28 11:48:50 +02:00 (CEST)
Date last edited	2021-02-04 13:31:44 +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

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'

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140 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
00001406	FamXL349	PubMed: Smahi 2000	2-generation family, 2 affected (2F)	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	2	Francesca Fusco
00001409	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001412	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001414	FamXL352	PubMed: Smahi 2000	-	F	-	-	-	-	-	-	-	IP	incontinentia pigmenti	IKBKG	IKBKG	1	1	Francesca Fusco
00001417	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001418	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001419	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001420	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001421	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001422	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001424	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001425	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001426	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001427	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001428	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001430	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001431	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001432	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	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	IKBKG	IKBKG	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	-	IKBKG	IKBKG	1	4	Francesca Fusco
00001436	FamXL213	PubMed: Aradhya 2001, PubMed: Aradhya 2001	2-generation family, affected mother/daughter, 1 spontaneous male abortion	F	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	2	Francesca Fusco
00001439	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001440	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001441	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001442	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001443	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001444	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001445	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001446	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001447	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001448	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001449	-	PubMed: Fusco 2008	-	F	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001450	-	PubMed: Fusco 2008	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001455	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001456	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001457	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001458	-	PubMed: Aradhya 2001	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001459	patient	PubMed: Martinez-Pomar 2005	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	?	Spain	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001460	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001461	PatKB	PubMed: Sebban-Benin 2007	-	F	-	France	-	-	-	-	-	IP	see paper; ..., severe incontinentia pigmenti	IKBKG	IKBKG	1	1	Francesca Fusco
00001462	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001463	FamXL203	PubMed: Smahi 2000	3-generation family, 4 affected (3F, M)	?	?	-	-	-	-	-	-	IP	incontinentia pigmenti, ectodermal dysplasia, immune deficiency	IKBKG	IKBKG	1	4	Francesca Fusco
00001464	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	ASD, IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001465	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	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	IKBKG	IKBKG	1	1	Francesca Fusco
00001469	-	PubMed: Smahi 2000	-	?	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001471	IP-48	PubMed: Fusco 2012	-	F	?	Italy	-	-	-	-	-	ASD, IP	-	IKBKG	G6PD, IKBKG	1	1	Francesca Fusco
00001472	IP-51	PubMed: Fusco 2012	-	F	?	Greece	-	-	-	-	-	IP	-	IKBKG	G6PD, IKBKG	1	1	Francesca Fusco
00001473	IP-11	PubMed: Fusco 2012	-	F	?	Italy	-	-	-	-	-	IP	-	IKBKG	G6PD, IKBKG	1	1	Francesca Fusco
00001474	IP-47	PubMed: Fusco 2012	-	F	?	Spain	-	-	-	-	-	IP	-	IKBKG	G6PD, IKBKG	1	1	Francesca Fusco
00001475	IP-50	PubMed: Fusco 2012	-	F	?	Mexico	-	-	-	-	-	CHD, IP	-	IKBKG	G6PD, IKBKG	1	1	Francesca Fusco
00001476	IP-14	PubMed: Fusco 2012	-	F	?	France	-	-	-	-	-	CHD, IP	-	IKBKG	G6PD, IKBKG	1	1	Francesca Fusco
00001477	IP-43	PubMed: Fusco 2012	-	F	?	Spain	-	-	-	-	-	IP	-	IKBKG	G6PD, IKBKG	1	1	Francesca Fusco
00001478	-	-	-	F	?	-	-	-	-	-	-	CHD, IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001479	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001480	-	-	-	F	?	-	-	-	-	-	-	ASD, IP, VSD	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001481	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001482	-	-	-	?	?	-	-	-	-	-	-	ASD, IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001484	-	-	-	?	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001485	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001486	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001487	-	-	-	?	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001488	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001489	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001490	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001492	-	-	-	?	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001493	-	-	-	?	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001494	-	-	-	?	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001495	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001496	-	-	-	?	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001497	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001498	-	-	-	F	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001499	-	-	-	?	?	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00275676	Pat07f	PubMed: Kawai 2020	-	F	?	Japan	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Miki Kawai, Hiroki Kurahashi
00275678	-	-	-	F	?	Japan	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Miki Kawai, Hiroki Kurahashi
00275679	Pat23f	PubMed: Kawai 2020	-	F	?	Japan	-	44y	-	-	-	IP	-	IKBKG	IKBKG	1	1	Miki Kawai, Hiroki Kurahashi
00275680	Pat26f;patient	PubMed: Kawai 2020, PubMed: Kanai 2021	-	F	?	Japan	-	02y	-	-	-	IP	see paper	IKBKG	IKBKG	1	1	Miki Kawai, Hiroki Kurahashi
00306192	90	-	-	F	-	China	-	-	-	-	-	IP	-	IKBKG	-	-	1	Sha Hong
00315935	-	-	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00329116	FamIP-603PatII1	PubMed: Fusco 2012	2-generation family, 1 affected, unaffected non-carrier parents	F	no	France	-	-	-	-	-	IP	see paper; ...	IKBKG	IKBKG	2	1	Johan den Dunnen
00329117	FamIP-583PatIII1	PubMed: Fusco 2012	3-generation family, 1 affected, unaffected non-carrier parents	F	-	France	-	-	-	-	-	IP	see paper; ...	IKBKG	IKBKG	1	1	Johan den Dunnen
00329152	FamXL287	PubMed: Aradhya 2001, PubMed: Aradhya 2001	2-generation family, affected mother/2 daughters, 1 spontaneous abortion, 1 spontaneous male abortion	F	-	-	-	-	-	-	-	IP	skin pigmentation, conical teeth, retinal detachment, alopecia, CNS problems	IKBKG	IKBKG	1	3	Johan den Dunnen
00329153	FamXL345	PubMed: Aradhya 2001, PubMed: Aradhya 2001	2-generation family, affected mother/daughter	F	-	-	-	-	-	-	-	IP	skin pigmentation, conical teeth, retinal detachment, alopecia, CNS problems	IKBKG	IKBKG	1	2	Johan den Dunnen
00329154	FamXL344	PubMed: Aradhya 2001, PubMed: Aradhya 2001	2-generation family, affected mother/daughter/son	F;M	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	3	Johan den Dunnen
00329155	FamXL267	PubMed: Aradhya 2001, PubMed: Aradhya 2001	2-generation family, 3 affected (3F)	F	-	-	-	-	-	-	-	IP	skin pigmentation, conical teeth, retinal detachment, alopecia, CNS problems	IKBKG	IKBKG	1	3	Johan den Dunnen
00329156	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Johan den Dunnen
00329157	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Johan den Dunnen
00329158	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Johan den Dunnen
00329159	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Johan den Dunnen
00329160	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Johan den Dunnen
00329161	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Johan den Dunnen
00329162	-	PubMed: Aradhya 2001	-	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	1	Johan den Dunnen
00329164	patient	PubMed: Niehaus 2004, PubMed: Puel 2006	3-generation family, 1 affected, 3 healthy carrier females	M	no	Germany	Poland	-	-	-	-	IP	see paper; ..., recurrent infections, immune deficiency; 12y10m-died from herpes simplex virus 1 meningo-encephalitis	IKBKG	IKBKG	1	1	Johan den Dunnen
00329165	-	PubMed: Aradhya 2001	112 families	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	112	Johan den Dunnen
00329166	-	PubMed: Aradhya 2001	109 sporadic cases	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	109	Johan den Dunnen
00329167	-	PubMed: Aradhya 2001	19 families	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	19	Johan den Dunnen
00329168	-	PubMed: Aradhya 2001	8 families	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	8	Johan den Dunnen
00329170	Fam72	PubMed: Smahi 2000	3-generation family, 3 affected (3F)	F	-	-	-	-	-	-	-	IP	ectodermal dysplasia, immune deficiency	IKBKG	IKBKG	1	3	Johan den Dunnen
00329171	families	PubMed: Smahi 2000	38 families	-	-	-	-	-	-	-	-	IP	-	IKBKG	IKBKG	1	38	Johan den Dunnen
00329173	FamHED-ID1	PubMed: Zonana 2000	3-generation family, 2 affected, heterozygous carrier mother	M	-	United States	-	-	-	-	-	IP	hypohidrotic ectodermal dysplasia, immunodeficiency	IKBKG	IKBKG	1	2	Johan den Dunnen

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Global Variome shared LOVD

STXBP5L (syntaxin binding protein 5-like)