Disease #01443 (MNLIX (Monilethrix), OMIM:158000)

Official abbreviation	MNLIX
Name	Monilethrix
OMIM ID	158000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	48
Phenotype entries for this disease	47
Associated with 3 genes	KRT81, KRT83, KRT86
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.

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$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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>=	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
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Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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48 entries on 1 page. Showing entries 1 - 48.

Legend

How to query

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
00443921	-	PubMed: van Steensel 2005	patient	F	-	Netherlands	-	-	-	-	-	MNLIX	see paper; ..., 6y-increasing hair loss (occipital region) exacerbated by mechanical stress, inability to grow long hair	KRT83	KRT83	1	1	Johan den Dunnen
00443922	-	PubMed: van Steensel 2005	patient	F	-	Turkey	-	-	-	-	-	MNLIX	see paper; ..., birth no hair at birth, 1y-growth started, slow and sparse; 18y-severe hair los	KRT86	KRT86	1	1	Johan den Dunnen
00443923	-	PubMed: van Steensel 2005	patient	F	-	Netherlands	-	-	-	-	-	MNLIX	see paper; ..., lifelong complaint of slowly growing, thin, brittle hair; thinly implanted short hair with weathered appearance, no skin abnormalities	-	-	-	1	Johan den Dunnen
00443931	Fam1PatII3	PubMed: Khandpur 2004	3-generation family, 10 affected (6F, 4M)	M	-	India	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT81, KRT86	4	10	Johan den Dunnen
00443932	Fam2	PubMed: Khandpur 2004	2-generation family, 6 affected (5F, M)	-	-	India	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT81, KRT86	2	6	Johan den Dunnen
00443934	Fam2	PubMed: Winter 1997	3-generation family, 2 affected (father/daughter)	-	-	Canada	-	-	-	-	-	MNLIX	see paper; ...	KRT81	KRT81	1	2	Johan den Dunnen
00443935	family	PubMed: Winter 1998	3-generation family, 1 affected	F	-	France	-	-	-	-	-	MNLIX	-	KRT81	KRT81	1	10	Johan den Dunnen
00443937	FamM2	PubMed: Korge 1999	family, 7 affected	-	-	Germany	-	-	-	-	-	MNLIX	see paper; ...	KRT81	KRT81	1	7	Johan den Dunnen
00443938	FamM6	PubMed: Korge 1999	family, 4 affected	-	-	Germany	-	-	-	-	-	MNLIX	see paper; ...	KRT81	KRT81	1	4	Johan den Dunnen
00443939	FamM8	PubMed: Korge 1999	family, 3 affected	-	-	Northern Ireland	-	-	-	-	-	MNLIX	see paper; ...	KRT81	KRT81	1	3	Johan den Dunnen
00443940	FamM11	PubMed: Korge 1999	family, 7 affected	-	-	Germany	-	-	-	-	-	MNLIX	see paper; ...	KRT81	KRT81	1	7	Johan den Dunnen
00443941	FamL	PubMed: Korge 1999	family, 2 affected	-	-	Scotland	-	-	-	-	-	MNLIX	see paper; ...	KRT81	KRT81	1	2	Johan den Dunnen
00443942	FamAPatI3	PubMed: Horev 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	Israel	-	-	-	-	-	MNLIX	see paper; ...	KRT81	KRT81	1	1	Johan den Dunnen
00443943	FamBPatII2	PubMed: Horev 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	Israel	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443944	FamD	PubMed: Korge 1999	family, 5 affected	-	-	Scotland	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	5	Johan den Dunnen
00443945	FamM9	PubMed: Korge 1999	family, 1 affected	-	-	Portugal	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443946	FamS	PubMed: Korge 1998, PubMed: Korge 1999	family, 17 affected	-	-	Scotland	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	17	Johan den Dunnen
00443947	FamO	PubMed: Korge 1998, PubMed: Korge 1999	family, 9 affected	-	-	Ireland	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	9	Johan den Dunnen
00443948	FamK	PubMed: Korge 1998, PubMed: Korge 1999	family, 11 affected	-	-	England	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	11	Johan den Dunnen
00443949	FamM1	PubMed: Korge 1998, PubMed: Korge 1999	2-generation family, 1 affected, unaffected non-carrier parents	-	-	Germany	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443950	FamM4	PubMed: Korge 1998, PubMed: Korge 1999	family, 5 affected	-	-	Germany	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	5	Johan den Dunnen
00443951	FamM10	PubMed: Korge 1999	family, 6 affected	-	-	Scotland	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	6	Johan den Dunnen
00443952	FamM12	PubMed: Korge 1999	family, 6 affected	-	-	Germany	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	6	Johan den Dunnen
00443953	Fam1	PubMed: Winter 1997	4-generation family, 12 affected (7F, 5M)	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	12	Johan den Dunnen
00443954	Fam2	PubMed: Winter 1997	3-generation family, 5 affected (F, 4M)	-	-	France	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	5	Johan den Dunnen
00443955	-	PubMed: Korge 1999	family	-	-	-	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443956	-	PubMed: Korge 1999	family	-	-	-	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443957	-	PubMed: Korge 1999	family	-	-	-	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443958	-	PubMed: Korge 1999	family	-	-	-	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443959	-	PubMed: Korge 1999	patient	-	-	-	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443960	Fam1	PubMed: Winter 1997	4-generation family, 10 affected (7F, 3M)	-	-	Germany	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	10	Johan den Dunnen
00443961	patient	PubMed: Winter 1999	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443962	Fam2	PubMed: Winter 1999	3-generation family, 8 affected (2F, 6M)	F;M	-	Sweden	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	8	Johan den Dunnen
00443963	patient	PubMed: Oetting 1999	3-generation family, 23 affected (10F, 13M)	F;M	-	Israel	Palestine	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	23	Johan den Dunnen
00443964	Family	PubMed: Zlotogorski 1998	4-generation family, 31 affected (12F, 16M), incl. 3 homozygous cases (F, 2M)	F;M	-	Israel	Arab	-	-	-	-	MNLIX	see paper; ..., hair fragility, hyperkeratotic papule	KRT86	KRT86	1	31	Johan den Dunnen
00443965	FamPatII14/17/20	PubMed: Zlotogorski 1998	3 homozygous cases	F;M	-	Israel	Arab	-	-	-	-	MNLIX	see paper; ..., 2m-complete lack oscalp hair, no improvement over time, follicular keratotic involvement extensively expressed (scalp, large body area)	KRT86	KRT86	1	3	Johan den Dunnen
00443966	family	PubMed: Feng 2008	2-generation family, affected mother/daughter	F	-	China	Han	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	2	Johan den Dunnen
00443967	Fam1	PubMed: Djabali 2003	3-generation family, 3 affected (2F, M)	F;M	-	Russia	-	-	-	-	-	MNLIX	see paper; ..., pronounced hair loss, hairs abnormally sparse/ fragile, beaded hairs/follicular hyperkeratosis visible to naked eye	KRT86	KRT86	1	3	Johan den Dunnen
00443968	Fam2	PubMed: Djabali 2003	3-generation family, 4 affected (F, 3M)	F;M	-	Colombia	-	-	-	-	-	MNLIX	see paper; ..., near total hair loss, most hairs <0.5 cm, few hairs grew normally; hair shafts fragile/regular periodicity of nodes of normal diameter/abnormally narrow internodes	KRT86	KRT86	1	4	Johan den Dunnen
00443969	PatA	PubMed: Pearce 1999	-	M	-	Wales	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443970	PatB	PubMed: Pearce 1999	-	F	-	Greece	-	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	1	Johan den Dunnen
00443971	family	PubMed: Winter 2000	3-generation family, 7 affected (F, 6M)	F;M	-	France	-	-	-	-	-	MNLIX	see paper; ..., 2m-diffuse hypotrichosis, onychodystrophy	KRT86	KRT86	1	7	Johan den Dunnen
00443972	Fam1	PubMed: Horev 2000	3-generation family, 22 affected (10F, 11M)	F;M	-	Israel	Arab	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	22	Johan den Dunnen
00443973	Fam2	PubMed: Horev 2000	2-generation family, 6 affected (2F, 4M)	F;M	-	Israel	Arab	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	6	Johan den Dunnen
00443974	Fam3	PubMed: Horev 2000	2-generation family, 3 affected (F, 2M)	F;M	-	Israel	jew-Ashkenazi	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	3	Johan den Dunnen
00443975	Fam4	PubMed: Horev 2000	4-generation family, 20 affected (5F, 15M)	F;M	-	Israel	jew-Ashkenazi	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	20	Johan den Dunnen
00443976	Fam5	PubMed: Horev 2000	3-generation family, 9 affected (3F, 6M)	F;M	-	Israel	jew-Ashkenazi	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	9	Johan den Dunnen
00443977	Fam6	PubMed: Horev 2000	4-generation family, 3 affected (3F)	F	-	Israel	jew-Ashkenazi	-	-	-	-	MNLIX	see paper; ...	KRT86	KRT86	1	3	Johan den Dunnen

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Global Variome shared LOVD

CYP4Z1 (cytochrome P450, family 4, subfamily Z, pol...)