Disease #05086 (HL (hearing loss (HL)))

Official abbreviation	HL
Name	hearing loss (HL)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	1295
Phenotype entries for this disease	1182
Associated with 7 genes	C10orf90, FAM179A, GRAP, MPZL2, PDZD7, PKHD1L1, USP48
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-10-23 11:41:05 +02:00 (CEST)
Date last edited	2015-10-23 11:43:00 +02:00 (CEST)

Individuals

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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	=""	all entries with this field empty
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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
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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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1295 entries on 13 pages. Showing entries 1 - 100.

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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
00004157	FamW05-009PatII3	PubMed: Seco 2015	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	-	HL	see paper; ...	CLIC5	CLIC5	1	2	Helger Yntema
00016188	24729539-Fam	PubMed: Azaiez 2014	4-generation family, 13 affecteds (5F, 8M)	F;M	no	United States	white	-	-	-	-	HL	-	TBC1D24	TBC1D24	1	13	Hela Azaiez
00081324	-	-	-	F	no	Korea, South (Republic)	Korean	-	-	-	-	HL	-	CDH23	CDH23	2	1	Bong Jik Kim
00081326	-	PubMed: Kim 2015	2-generation family, 1 affected, unaffected parents	F	no	Korea	-	-	-	-	-	HL	-	CDH23	CDH23	2	1	Bong Jik Kim
00081425	-	-	-	-	-	Korea	-	-	-	-	-	HL	-	MYH14	MYH14	2	1	Bong Jik Kim
00107712	-	-	-	-	-	-	-	-	-	-	-	HL	Non-syndromic hearing loss	LRP5	LRP5	1	1	Wenjun Xia
00181507	26264712-FamSH59-133	PubMed: Kim 2015	4-generation family, 1 affected, unaffected parents	F	-	Korea	-	-	-	-	-	HL	severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing	CDH23	CDH23	2	1	Johan den Dunnen
00181508	26264712-FamSH97-211	PubMed: Kim 2015	3-generation family, 1 affected, unaffected parents	F	-	Korea	-	-	-	-	-	HL	severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing	CDH23	CDH23	1	1	Johan den Dunnen
00181509	26264712-FamSH164-359	PubMed: Kim 2015	3-generation family, 1 affected, unaffected parents	F	-	Korea	-	-	-	-	-	HL	severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing	CDH23	CDH23	1	1	Johan den Dunnen
00183338	29982980-Fam1	PubMed: Bademci 2018	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	yes	Turkey	-	-	-	-	-	HL	see paper; ..., autosomal recessive nonsyndromic moderate hearing loss	MPZL2	MPZL2	1	2	Johan den Dunnen
00183339	29982980-Fam2	PubMed: Bademci 2018	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	yes	Turkey	-	-	-	-	-	HL	see paper; ..., autosomal recessive nonsyndromic moderate hearing loss	MPZL2	MPZL2	1	2	Johan den Dunnen
00183340	29982980-Fam3	PubMed: Bademci 2018	2-generation family, 4 affected (3F, M), unaffected heterozygous carrier father	F;M	yes	Iran	-	-	-	-	-	HL	see paper; ..., autosomal recessive nonsyndromic moderate hearing loss	MPZL2	MPZL2	1	4	Johan den Dunnen
00183341	ASHG2018-P171	Bademci ASHG2018 P171	2 unrelated families	-	-	Iran	-	-	-	-	-	HL	autosomal recessive nonsyndromic moderate hearing loss	GRAP	GRAP	1	2	Johan den Dunnen
00183342	ASHG2018-P171	Bademci ASHG2018 P171	2 unrelated families	-	-	Iran;Turkey	-	-	-	-	-	HL	autosomal recessive nonsyndromic moderate hearing loss	FAM179A	FAM179A	1	2	Johan den Dunnen
00217299	-	-	-	F	no	Korea, South (Republic)	Korea	04y	-	-	cochlear implant	HL	without platelet abnormality, so non-syndromic	COCH	DIAPH1	1	2	Bong Jik Kim
00248370	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	GJB2	-	1	1	Zahra Tabatabaei
00261206	Fam1	PubMed: Morgan 2019	3-generation family, 3 affected (2F, M)	F;M	-	-	Europe	-	-	-	-	HL	see paper; …	PLS1	PLS1	1	3	Johan den Dunnen
00261207	Fam2	PubMed: Morgan 2019	4-generation family, 16 affected (6F, 10M)	F;M	-	-	Europe	-	-	-	-	HL	see paper; …	PLS1	PLS1, PPP2R2A, TEX15	3	16	Johan den Dunnen
00261208	Fam3	PubMed: Morgan 2019	3-generation family, 3 affected (F, 2M)	F;M	-	-	Europe	-	-	-	-	HL	see paper; …	PLS1	PLS1	1	3	Johan den Dunnen
00263437	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263438	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263439	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263440	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263441	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263442	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263443	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263444	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263445	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263446	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263447	-	Tabatabaei 2019, submitted	frequency marker D13S046	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263448	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263449	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263450	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263451	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263452	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263453	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263454	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263455	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263456	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263457	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00263458	-	Tabatabaei 2019, submitted	frequency marker D13S1366	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265182	-	Tabatabaei 2019, submitted	frequency marker D13S870	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265183	-	Tabatabaei 2019, submitted	frequency marker D13S870	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265184	-	Tabatabaei 2019, submitted	frequency marker D13S870	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265185	-	Tabatabaei 2019, submitted	frequency marker D13S870	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265186	-	Tabatabaei 2019, submitted	frequency marker D13S870	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265187	-	Tabatabaei 2019, submitted	frequency marker D13S870	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265188	-	Tabatabaei 2019, submitted	frequency marker D13S870	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265189	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265190	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265191	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265192	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265193	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265194	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265195	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265196	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265197	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265198	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265199	-	Tabatabaei 2019, submitted	frequency marker D13S1368	-	-	Iran	-	-	-	-	-	HL	-	-	-	1	1	Zahra Tabatabaei
00265280	NSHLF1	PubMed	-	F	yes	Iran	-	09y?	-	no	none	HL	the patient was a seven-year-old female presenting with microcephaly, intellectual disability (mild mental retardation), bilateral sensorineural hearing loss and speech difficulty.	TMC1	TMC1	1	1	Ehsan Razmara
00271385	FamGC19277	PubMed: Davidson 2013	5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Israel	European	-	-	-	-	HL, retinal disease	primary ciliary dyskinesia, recurrent otitis media progressively affecting hearing, retinitis pigmentosa, respiratory failure from early age, required physiotherapy regularly through school years;20s-night-vision problems, ERG confirmed severe rod and /cone dysfunction, progressive loss peripheral vision and later central vision; visual acuities right 0.25/left 0.5, visual fields constricted to 10, fundus examination revealed widespread retinal degeneration with only sparse bone-spicule pigmentation	ARL2BP, HYDIN	ARL2BP, HYDIN	2	1	Johan den Dunnen
00281917	-	PubMed: Boulouiz 2008	-	-	-	-	-	-	-	-	-	HL	-	ESPN	ESPN	1	1	Global Variome, with Curator vacancy
00281920	-	PubMed: Donaudy 2006	-	-	-	-	-	-	-	-	-	HL	-	ESPN	ESPN	1	1	Global Variome, with Curator vacancy
00281922	-	PubMed: Donaudy 2006	-	-	-	-	-	-	-	-	-	HL	-	ESPN	ESPN	1	1	Global Variome, with Curator vacancy
00281923	-	PubMed: Donaudy 2006	-	-	-	-	-	-	-	-	-	HL	-	ESPN	ESPN	1	1	Global Variome, with Curator vacancy
00281924	-	-	-	-	-	-	-	-	-	-	-	HL	-	ESPN	ESPN	1	1	Global Variome, with Curator vacancy
00281927	-	PubMed: Donaudy 2006	-	-	-	-	-	-	-	-	-	HL	-	ESPN	ESPN	1	1	Global Variome, with Curator vacancy
00281930	-	PubMed: Doherty 2012, PubMed: Walsh 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	HL	-	GPSM2	GPSM2	1	1	Global Variome, with Curator vacancy
00281941	-	PubMed: Doherty 2012, PubMed: Yariz 2012	-	-	-	-	-	-	-	-	-	HL	-	GPSM2	GPSM2	1	1	Global Variome, with Curator vacancy
00281945	-	PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2009	-	-	-	-	-	-	-	-	-	HL	-	KCNJ10	KCNJ10	1	1	Global Variome, with Curator vacancy
00281950	-	PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2009	-	-	-	-	-	-	-	-	-	HL	-	KCNJ10	KCNJ10	1	1	Global Variome, with Curator vacancy
00281970	-	PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993	-	-	-	-	-	-	-	-	-	HL	-	KCNQ4	KCNQ4	1	1	Global Variome, with Curator vacancy
00281977	-	PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993	-	-	-	-	-	-	-	-	-	HL	-	KCNQ4	KCNQ4	1	1	Global Variome, with Curator vacancy
00281982	-	PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Abdelfatah 2013, PubMed: Watabe 2013	-	-	-	-	-	-	-	-	-	HL	-	KCNQ4	KCNQ4	1	1	Global Variome, with Curator vacancy
00281985	-	PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Wang 2014	-	-	-	-	-	-	-	-	-	HL	-	KCNQ4	KCNQ4	1	1	Global Variome, with Curator vacancy
00281992	-	PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993	-	-	-	-	-	-	-	-	-	HL	-	KCNQ4	KCNQ4	1	1	Global Variome, with Curator vacancy
00281993	-	PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993	-	-	-	-	-	-	-	-	-	HL	-	KCNQ4	KCNQ4	1	1	Global Variome, with Curator vacancy
00281995	-	PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993	-	-	-	-	-	-	-	-	-	HL	-	KCNQ4	KCNQ4	1	1	Global Variome, with Curator vacancy
00282134	-	PubMed: Joshua 2008	-	-	-	-	-	-	-	-	-	HL	renal tubular acidosis	ATP6V1B1	ATP6V1B1	1	1	Global Variome, with Curator vacancy
00282142	-	PubMed: Yashima 2010	-	-	-	-	-	-	-	-	-	HL	renal tubular acidosis	ATP6V1B1	ATP6V1B1	1	1	Global Variome, with Curator vacancy
00282159	-	PubMed: Yashima 2010	-	-	-	-	-	-	-	-	-	HL	renal tubular acidosis	ATP6V1B1	ATP6V1B1	1	1	Global Variome, with Curator vacancy
00282164	-	PubMed: Ebermann 2007	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282165	-	PubMed: Schwander 2007	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282168	-	-	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282170	-	PubMed: Babanejad 2012	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282172	-	PubMed: Shahin 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282176	-	PubMed: Shearer 1993, PubMed: Collin 2007, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282177	-	PubMed: Collin 2007	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282181	-	PubMed: Hashemzadeh Chaleshtori 2007	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282182	-	PubMed: Collin 2007	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282184	-	PubMed: Zhang 2015	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282185	-	-	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282187	-	PubMed: Hashemzadeh Chaleshtori 2007	-	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	1	Global Variome, with Curator vacancy
00282188	HLGM15	PubMed: Mujtaba 2012, PubMed: Naz 2017	family, 6 affected	-	-	-	-	-	-	-	-	HL	-	DFNB59	DFNB59	1	6	Global Variome, with Curator vacancy
00282303	-	PubMed: von Ameln 2012	-	-	-	-	-	-	-	-	-	HL	-	PNPT1	PNPT1	1	1	Global Variome, with Curator vacancy
00282320	-	PubMed: Vona 2014	-	-	-	-	-	-	-	-	-	HL	-	CCDC50	CCDC50	1	1	Global Variome, with Curator vacancy
00282327	-	PubMed: Modamio-Hoybjor 2007	-	-	-	-	-	-	-	-	-	HL	-	CCDC50	CCDC50	1	1	Global Variome, with Curator vacancy
00282339	-	PubMed: Diaz-Horta 2012	-	-	-	-	-	-	-	-	-	HL	-	ILDR1	ILDR1	1	1	Global Variome, with Curator vacancy
00282348	-	PubMed: Babanejad 2012	-	-	-	-	-	-	-	-	-	HL	-	ILDR1	ILDR1	1	1	Global Variome, with Curator vacancy
00282350	-	-	-	-	-	-	-	-	-	-	-	HL	-	ILDR1	ILDR1	1	1	Global Variome, with Curator vacancy

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Global Variome shared LOVD

FBXO38 (F-box protein 38)