Disease #02242 (XLI (ichthyosis, X-linked (XLI)), OMIM:308100)

Official abbreviation	XLI
Name	ichthyosis, X-linked (XLI)
OMIM ID	308100
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	101
Phenotype entries for this disease	103
Associated with 1 gene	STS
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

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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101 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
00206831	-	PubMed: Yen 1987	8/10 patients complete gene deletion	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00206832	-	PubMed: Bonifas 1987	14/15 complete gene deletion	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00206833	-	PubMed: Conary 1987	2/3 complete gene deletion	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00206834	-	PubMed: Gillard 1987	8/9 complete gene deletion	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00206836	-	PubMed: Ballabio 1989	16 men from 10 families complete gene deletion	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00206837	-	PubMed: Shapiro 1989	27/30 complete gene deletion	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00206838	-	PubMed: Shapiro 1989	patient J.H.	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207342	-	PubMed: Basler 1992	patient D (R.B.)	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207343	-	PubMed: Basler 1992	Patient A (T.R.)	M	-	Scotland	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207344	-	PubMed: Basler 1992	Patient C (R.E.)	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207346	-	PubMed: Bernatowicz 1992	first described in Ballabio (1989) Genomics 4,36	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207427	-	PubMed: Sugawara 2000	-	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207429	-	PubMed: Sugawara 1993	6/6 complete gene deletion	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207431	-	PubMed: Alperin 1997	Patient Z	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207432	-	PubMed: Alperin 1997	Patient S	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207433	-	PubMed: Alperin 1997	Patient T	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207436	-	PubMed: Morita 1997	8/9 complete gene deletion	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207438	-	PubMed: Morita 1997	-	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207440	-	PubMed: Oyama 2000	Patient A	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207441	-	PubMed: Oyama 2000	Patient B	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207442	-	PubMed: Valdes-Flores 2001	partial gene deletion	M	-	Mexico	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207444	-	PubMed: Valdes-Flores 2001	-	M	-	Mexico	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207446	-	PubMed: Valdes-Flores 2001	-	M	-	Mexico	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207448	-	PubMed: Gonzalez-Huerta 2003	-	M	-	Mexico	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207449	-	PubMed: Liao 2007	Also p.R501* FLG mutation present	M	-	Scotland	-	-	-	-	-	XLI	marked hyperkeratosis	FLG, STS	STS	1	1	Michel van Geel
00207451	-	PubMed: Murtaza 2014	Family D1	M	-	Pakistan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207452	-	PubMed: Murtaza 2014	Family D2 (includes female patient), D3, D23	M	-	Pakistan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207453	-	PubMed: Winge 2011	-	M	-	-	-	-	-	-	-	XLI	-	FLG, STS	STS	1	1	Michel van Geel
00207454	-	PubMed: Takeichi 2015	-	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207455	-	PubMed: del Refugio Rivera Vega 2015	-	M	-	Mexico	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207463	-	PubMed: Diociaiuti 2016	patient ID-49	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207465	-	PubMed: Diociaiuti 2016	patient ID-47	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207466	-	PubMed: Diociaiuti 2016	patient ID-48	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207476	-	PubMed: Diociaiuti 2016	8/13 complete gene deletion. patient ID-52, ID-53, ID-54, ID-55, ID-56, ID-57, ID-58, ID-59	M	-	Italy	-	-	-	-	-	XLI	Patient ID-52 showed residue of collodion membrane and palmoplantar involvement	STS	STS	1	1	Michel van Geel
00207477	-	PubMed: Oyama 2016	patient 1	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207478	-	PubMed: Oyama 2016	patient 2	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207479	P2	PubMed: Wei 2011	-	M	-	China	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207482	-	PubMed: Trevisson 2015	Patient with independent mutations affecting the KAL1 and STS genes	M	-	-	-	-	-	-	-	KAL, XLI	includes Kallman phenotype	KAL1, STS	STS	1	1	Michel van Geel
00207483	-	PubMed: Goodwin 2016	patient also having HDR syndrome due to GATA3 mutation	M	-	-	-	-	-	-	-	HPT, XLI	Patient also having hypoparathyroidism and deafness	GATA3, STS	STS	1	1	Michel van Geel
00207485	-	PubMed: Retterer 2016	-	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207487	Pat13	PubMed: Bruno 2011	-	M	-	Australia	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207489	Pat14	PubMed: Bruno 2011	-	M	-	Australia	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207495	-	PubMed: Nagtzaam 2012	-	F	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207499	-	PubMed: Saeki 1998	11/12 patient complete gene deletion	M	-	Japan	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207509	-	PubMed: Abdel-Hamid 2016	-	M	-	Egypt	-	-	-	-	-	MCPH5, XLI	Also primary microcephaly-5	ASPM, STS	STS	1	1	Michel van Geel
00207510	-	PubMed: Canueta 2010	30/40 complete gene deletion	M	-	Spain	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207511	-	PubMed: Idkowiak 2016	-	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207512	-	PubMed: Idkowiak 2016	patient P16	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00207514	-	PubMed: Idkowiak 2016	27/30 complete gene deletion	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00211187	-	PubMed: Ohyama 2018	two affected brothers	M	-	-	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00211188	-	PubMed: Diociaiuti 2018	patient 3	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00211189	-	PubMed: Diociaiuti 2018	patient 8	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00211190	-	PubMed: Diociaiuti 2018	patient 4	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00211191	-	PubMed: Diociaiuti 2018	patient 12	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00211192	-	PubMed: Diociaiuti 2018	27/35 patients complete gene deletion	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00211193	-	PubMed: Diociaiuti 2018	-	M	-	Italy	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00358936	-	PubMed: Diociaiuti 2019	-	F	yes	India	-	-	-	-	-	XLI	Girl with X-linked ichthyosis	STS	STS	1	1	Michel van Geel
00358940	-	PubMed: Borská 2019	patient no.57	M	-	Czech Republic	-	-	-	-	-	XLI	collodion membrane	STS	STS	1	1	Michel van Geel
00358941	-	PubMed: Borská 2019	patient no.58	M	-	Czech Republic	-	-	-	-	-	XLI	collodion membrane, ectropion and eclabion	STS	STS	1	1	Michel van Geel
00358942	-	PubMed: Afzal 2020	five generation consanguineous family with 14 affected males and 2 females	-	-	Pakistan	-	-	-	-	-	XLI	-	STS	STS	1	16	Michel van Geel
00375184	-	Nagtzaam et al, submitted	patient ID 6	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375204	-	Nagtzaam et al, submitted	patient ID 2	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375205	-	Nagtzaam et al, submitted	patient ID 3	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375206	-	Nagtzaam et al, submitted	patient ID 4	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375219	-	Nagtzaam et al, submitted	patient ID 7	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375220	-	Nagtzaam et al, submitted	patient ID 8	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375221	-	Nagtzaam et al, submitted	patient ID 9	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375222	-	Nagtzaam et al, submitted	patient ID 10	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375223	-	Nagtzaam et al, submitted	patient ID 11	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375224	-	Nagtzaam et al, submitted	patient ID 12	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375225	-	Nagtzaam et al, submitted	patient ID 13	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375226	-	Nagtzaam et al, submitted	patient ID 14	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00375227	-	Nagtzaam et al, submitted	patient ID 15	M	-	Netherlands	-	-	-	-	-	XLI	-	FLG, STS	FLG, STS	3	1	Michel van Geel
00375228	-	Nagtzaam et al, submitted	patient ID 16-72	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	57	Michel van Geel
00375229	-	Nagtzaam et al, submitted	patient ID 1	M	-	Netherlands	-	-	-	-	-	XLI	-	STS	STS	1	1	Michel van Geel
00408295	Fam2PatV2/3/8	PubMed: Chouk 2022	5-generation family, 3 affected (3M), unaffected heterozygous carrier females	M	yes	Tunisia	-	-	-	-	-	XLI	-	STS	STS	2	3	Hamza Chouk
00423248	Fam1PatIII6/8/9/10	PubMed: Chouk 2022	3-generation family, 5 affected (5M), unaffected heterozygous carrier females	M	no	Tunisia	-	-	-	-	-	XLI	see paper; ...	STS	STS	2	5	Hamza Chouk
00423249	Fam3PatIV7/12	PubMed: Chouk 2022	4-generation family, 8 affected (8M), unaffected heterozygous carrier females	M	no	Tunisia	-	-	-	-	-	XLI	see paper	STS	STS	2	8	Hamza Chouk
00423253	Pat03f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 4	IKBKG	IKBKG	1	1	Johan den Dunnen
00423254	Pat05f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423255	Pat06f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423256	Pat08f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423257	Pat09f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 4	IKBKG	IKBKG	1	1	Johan den Dunnen
00423258	Pat10f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 4	IKBKG	IKBKG	1	1	Johan den Dunnen
00423259	Pat11f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423260	Pat12f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 2	IKBKG	IKBKG	1	1	Johan den Dunnen
00423261	Pat13f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423262	Pat14f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 5	IKBKG	IKBKG	1	1	Johan den Dunnen
00423263	Pat16f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423264	Pat17f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423265	Pat18f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 5	IKBKG	IKBKG	1	1	Johan den Dunnen
00423266	Pat19f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 1	IKBKG	IKBKG	1	1	Johan den Dunnen
00423267	Pat20f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 1	IKBKG	IKBKG	1	1	Johan den Dunnen
00423268	Pat21f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423269	Pat22f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423270	Pat24m	PubMed: Kawai 2020	-	M	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 2	IKBKG	IKBKG	1	1	Johan den Dunnen
00423271	Pat25f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 2	IKBKG	IKBKG	1	1	Johan den Dunnen
00423272	Pat28f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 5	IKBKG	IKBKG	1	1	Johan den Dunnen
00423273	Pat29f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen
00423274	Pat30f	PubMed: Kawai 2020	-	F	-	Japan	-	-	-	-	-	XLI	see paper; ..., phenotype score 3	IKBKG	IKBKG	1	1	Johan den Dunnen

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Global Variome shared LOVD

OR5B21 (olfactory receptor, family 5, subfamily B, ...)