All individuals with variants in gene FERMT1

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.

226 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00247519	Pat3	PubMed: Has 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	KNDLRS	-	2	1	LOVD
00247520	patient	PubMed: de Almeida 2013	-	F	no	Brazil	mulato	-	-	-	-	KNDLRS	Skin fragility; blisters; mucosal involvement	2	1	Hiram de Almeida
00247521	Pat4	PubMed: Has 2006	-	F	-	Italy	Calabria	-	-	-	-	KNDLRS	-	2	1	LOVD
00247522	Fam2	PubMed: Fuchs-Telem 2014	4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Israel	Druze	-	-	-	-	KNDLRS	skin fragility and blistering located over areas exposed to pressure; atrophic and hyperpigmented skin areas, mainly involving sun‐exposed sites; severe dental caries;anal stenosis and phimosis (treated with recurrent catheterization)	1	4	LOVD
00247523	Pat2	PubMed: Has 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	KNDLRS	see paper; ...	1	1	LOVD
00247524	patient	PubMed: Zhuo 2009	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	China	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247525	Pat3	PubMed: Has 2006	-	F	-	Italy	Calabria	-	-	-	-	KNDLRS	-	1	1	LOVD
00247526	Pat1	PubMed: Has 2006	-	F	-	Italy	Calabria	-	-	-	-	KNDLRS	-	1	1	LOVD
00247527	Pat2	PubMed: Has 2006	-	F	-	Italy	Calabria	-	-	-	-	KNDLRS	-	1	1	LOVD
00247528	-	-	-	M	-	Italy	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247529	Pat3	PubMed: Has 2011	-	M	-	Turkey	-	-	-	-	-	KNDLRS	trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; no webbing/pseudoainhum hands/feet; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer	1	1	LOVD
00247530	Pat7	PubMed: Has 2011	-	M	-	Turkey	-	-	-	-	-	KNDLRS	trauma induced blisters; atrophy on the dorsal aspects of hands and feet; no photo sensitivity; no webbing/pseudoainhum hands/feet; periodontitis/microstoma; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer	1	1	LOVD
00247531	Pat2	PubMed: Has 2008	-	F	-	Bulgaria	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247532	Pat1	PubMed: Has 2008	-	M	-	Bulgaria	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247533	Pat3	PubMed: Has 2008	-	F	-	Bulgaria	-	58y	-	-	-	KNDLRS	Two squamous cell carcinoma of the hands and squamous cell carcinoma of the lower lip	1	1	LOVD
00247534	Pat1	PubMed: Has 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	India	-	-	-	-	-	KNDLRS	-	1	2	LOVD
00247535	-	PubMed: Sadler 2006	-	F	-	Turkey	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247536	-	PubMed: Techanukul 2011	-	M	-	India	-	-	-	-	-	KNDLRS	-	2	1	LOVD
00247537	Pat6	PubMed: Has 2006	-	F	-	Italy	Sardinia	-	-	-	-	KNDLRS	Squamous cell carcinoma of the lower lip	1	1	LOVD
00247538	Fam1	PubMed: Fuchs-Telem 2014	4-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives	F;M	yes	Israel	Arab Moslem	-	-	-	-	KNDLRS	childhood atrophic and fragile hypo‐ and hyperpigmented skin, brachydactyly, syndactyly, nail dystrophy, dental caries; PatIII4 37y-invasive transitional cell carcinoma bladder	1	6	LOVD
00247539	-	PubMed: Techanukul 2011	-	F	-	Australia	-	-	-	-	-	KNDLRS	-	2	1	LOVD
00247540	-	-	-	F	-	Italy	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247541	-	PubMed: Mansur 2007	-	M	-	Turkey	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247542	-	-	-	M	?	Turkey	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247543	-	PubMed: Siegel 2003	-	-	-	Jordan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247544	-	PubMed: Siegel 2003	-	-	-	Jordan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247545	Pat51	PubMed: Has 2011	-	M	-	France	-	-	-	-	-	KNDLRS	trauma induced blisters; atrophy on the dorsal aspects of hands and feet; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; dysphagia; no intestine symptoms; no anal symptoms; urogenital bleeding, fissures; no ocular symptoms; no epithelial skin cancer	1	1	LOVD
00247546	-	PubMed: Has 2009	-	M	-	Switzerland	-	-	-	-	-	KNDLRS	Actinic keratoses	1	1	LOVD
00247547	-	PubMed: Has 2009	-	M	-	-	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247548	-	Has ., Dermatology, 2010	-	F	-	Switzerland	-	-	-	-	-	KNDLRS	Squamous cell carcinoma of the hand	1	1	LOVD
00247549	-	PubMed: Lai-Cheong 2009 PubMed: Emanuel 2006	-	M	-	United States	Hispanic	-	-	-	-	KNDLRS	Squamous carcinoma of the left hand, recurrence, amputation	1	1	LOVD
00247550	Fam7	Journal: Youssefian 2015, PubMed: Youssefian 2015	4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives	M	yes	Iran	-	-	-	-	-	KNDLRS	Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Severe desquamative gingivitis ; Acrokeratosis	1	3	Leila Youssefian
00247551	-	PubMed: Almeida 2013	-	F	-	Brazil	-	-	-	-	-	KNDLRS	widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention.	2	1	LOVD
00247552	-	-	-	F	-	Belgium	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247553	-	PubMed: Lai-Cheong 2007	-	F	-	India	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247554	Pat9	PubMed: Has 2006	-	M	-	Italy	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247555	-	PubMed: Siegel 2003	-	-	-	Italy	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247556	-	PubMed: Techanukul 2011	-	F	-	India	-	-	-	-	-	KNDLRS	-	2	1	LOVD
00247557	-	-	-	F	-	Germany	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247558	FamAPat9	PubMed: Jobard 2003	2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents	F	-	Algeria	-	-	-	-	-	KNDLRS	-	1	3	LOVD
00247559	FamAPat5	PubMed: Jobard 2003	older brother	M	-	Algeria	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247560	FamAPat4	PubMed: Jobard 2003	older sister	F	-	Algeria	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247561	-	PubMed: Has 2009	-	M	yes	Germany	-	-	-	-	-	KNDLRS	squamous cell carcioma of the lip at the age of 28y; Revertant mosaicism	1	1	LOVD
00247562	FamEPat3	PubMed: Jobard 2003	2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents	F	-	Algeria	-	-	-	-	-	KNDLRS	-	1	2	LOVD
00247563	FamEPat2	PubMed: Jobard 2003	older brother	M	-	Algeria	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247564	-	PubMed: Lai-Cheong 2007	-	M	-	India	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247565	-	PubMed: Lai-Cheong 2007	-	F	-	India	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247566	Fam1	Journal: Youssefian 2015, PubMed: Youssefian 2015	6-generation family, 9 affected (3F, 6M), unaffected heterozygous carrier parents/relatives	F	yes	Iran	-	-	-	-	-	KNDLRS	Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture;	1	9	Leila Youssefian
00247567	-	PubMed: Siegel 2003	-	-	-	Pakistan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247568	Fam4	Journal: Youssefian 2015, PubMed: Youssefian 2015	4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	F	yes	Iran	-	-	-	-	-	KNDLRS	Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Acrokeratosis;	1	3	Leila Youssefian
00247569	-	-	-	F	-	Turkey	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247570	-	-	-	F	-	Albania	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247571	-	PubMed: Kern 2007	-	F	-	Albania	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247572	-	PubMed: Mansur 2007	-	F	-	Albania	-	24y	-	-	-	KNDLRS	-	1	1	LOVD
00247573	-	PubMed: Techanukul 2011	-	M	-	India	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247574	-	PubMed: Techanukul 2011	-	M	-	Yugoslavia	Serbian	-	-	-	-	KNDLRS	Squamous cell carcinoma of the upper lip at 43y and squamous cell carcinoma of the penis at 45y	1	1	LOVD
00247575	-	PubMed: Techanukul 2011	-	M	-	Yugoslavia	Serbian	-	-	-	-	KNDLRS	-	1	1	LOVD
00247576	-	PubMed: Martignago 2007	-	M	-	Brazil	Italian	?	-	-	-	KNDLRS	-	1	1	LOVD
00247577	-	PubMed: Martignago 2007	-	F	-	Brazil	Italian	-	-	-	-	KNDLRS	-	1	1	LOVD
00247578	-	PubMed: Martignago 2007	-	F	-	Brazil	Italian	-	-	-	-	KNDLRS	-	1	1	LOVD
00247579	-	PubMed: Martignago 2007	-	M	-	Brazil	Italian	-	-	-	-	KNDLRS	-	1	1	LOVD
00247580	-	PubMed: Martignago 2007	-	M	-	Brazil	Italian	-	-	-	-	KNDLRS	-	1	1	LOVD
00247581	-	PubMed: Martignago 2007	-	M	-	Brazil	Italian	-	-	-	-	KNDLRS	-	1	1	LOVD
00247582	-	PubMed: Martignago 2007	-	F	-	Brazil	Italian	?	-	-	-	KNDLRS	-	1	1	LOVD
00247583	-	PubMed: Martignago 2007	-	F	-	Brazil	Italian	-	-	-	-	KNDLRS	-	1	1	LOVD
00247584	-	-	-	M	-	-	-	-	-	-	-	KNDLRS	-	2	1	LOVD
00247585	-	-	-	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	KNDLRS	Revertant mosaicism	1	1	LOVD
00247586	-	-	-	F	-	Pakistan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247587	-	-	-	M	-	Pakistan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247588	-	-	-	F	-	Pakistan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247589	-	-	-	M	-	Pakistan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247590	-	-	-	F	yes	Pakistan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247591	-	-	-	F	yes	Pakistan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247592	-	-	-	M	yes	Pakistan	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247593	-	-	-	F	?	Romania	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247594	Fam11	Journal: Youssefian 2015, PubMed: Youssefian 2015	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	no	Iran	-	-	-	-	-	KNDLRS	Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Severe desquamative gingivitis ; Acrokeratosis;	1	1	Leila Youssefian
00247595	-	PubMed: Techanukul 2011	-	F	-	Israel	Jewish;Kurdistan	42y	-	-	-	KNDLRS	Squamous cell carcinoma of the hard palate at the age of 34y	1	3	LOVD
00247596	FamCPat4	PubMed: Jobard 2003	sister	F	-	Senegal	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247597	FamCPat3	PubMed: Jobard 2003	brother	M	-	Senegal	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247598	FamCPat5	PubMed: Jobard 2003	2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents	F	-	Senegal	-	-	-	-	-	KNDLRS	-	1	3	LOVD
00247599	-	-	-	F	-	Canada	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247600	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247601	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247602	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247603	-	Siegel , 2003; Penagos , 2004	-	M	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247604	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247605	-	Siegel , 2003; Penagos , 2004	-	M	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247606	-	Siegel , 2003; Penagos , 2004	-	M	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247607	-	Siegel , 2003; Penagos , 2004	-	M	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247608	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247609	-	Siegel , 2003; Penagos , 2004	-	M	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247610	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247611	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247612	-	Siegel , 2003; Penagos , 2004	-	M	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247613	-	Siegel , 2003; Penagos , 2004	-	M	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247614	-	Siegel , 2003; Penagos , 2004	-	M	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247615	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247616	-	Siegel , 2003; Penagos , 2004	-	F	-	Panama	-	-	-	-	-	KNDLRS	-	1	1	LOVD
00247617	-	PubMed: Burch 2006	-	M	-	United States	-	-	-	-	-	KNDLRS	-	2	1	LOVD
00247618	-	PubMed: Siegel 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	KNDLRS	-	1	1	LOVD

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Global Variome shared LOVD

FERMT1 (fermitin family member 1)