Disease #02274 (LHON (Leber hereditary optic neuropathy), OMIM:535000)

Official abbreviation	LHON
Name	Leber hereditary optic neuropathy
OMIM ID	535000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive, Mitochondrial
Individuals reported having this disease	78
Phenotype entries for this disease	63
Associated with 2 genes	DNAJC30, MT-ND1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2022-09-29 11:06:24 +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
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Antarctica
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Australia
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Austria
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Bahrain
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Bangladesh
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bhutan
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Bolivia
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Bosnia and Herzegovina
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
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Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
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Cayman Islands
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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
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Czech Republic
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Denmark
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
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England
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Equatorial Guinea
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Eritrea
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Estonia
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Ethiopia
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Falkland Islands (Malvinas)
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
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Guam
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Guatemala
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Guiana, French
(Guiana, French)
Guinea
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Guinea-Bissau
(Guinea-Bissau)
Guyana
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Haiti
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Heard and McDonald Islands
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
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Ireland
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Israel
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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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
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Latvia
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Mayotte
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Mexico
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Micronesia
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Morocco
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Myanmar
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Neutral Zone (Saudia Arabia/Iraq)
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New Zealand
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Norway
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Oman
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Palau
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Panama
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Paraguay
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Peru
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Philippines
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Pitcairn
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
(Puerto Rico)
Qatar
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Reunion
(Reunion)
Romania
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Russia
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Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
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Somalia
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South Africa
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Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
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Sri Lanka
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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
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Swaziland
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Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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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

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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'
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!=""	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
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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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78 entries on 1 page. Showing entries 1 - 78.

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
00305360	Fam1	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305361	Fam2	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305362	Fam3	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	2	Johan den Dunnen
00305363	Fam4	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305364	Fam5	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305365	Fam6	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305366	Fam7	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305367	Fam8	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, 3 unaffected homozygous females, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305368	Fam9	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	2	1	Johan den Dunnen
00305369	Fam10	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305370	Fam11	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, 1 unaffected homozygous male, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305371	Fam12	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305372	Fam13	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305373	Fam14	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305374	Fam15	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	2	Johan den Dunnen
00305375	Fam16	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305376	Fam17	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	-	-	1	Johan den Dunnen
00305377	Fam18	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 2 affected (2M), unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	2	Johan den Dunnen
00305378	Fam19	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305379	Fam20	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, affected brothers, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	2	Johan den Dunnen
00305380	Fam21	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305381	Fam22	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305382	Fam23	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305383	Fam24	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305384	Fam25	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305385	Fam26	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305386	Fam27	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305387	Fam28	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00305388	Fam29	Stenton ESHG2020 C25.5, PubMed: Stenton 2021	2-generation family, 1 affected, 1 unaffected homozygous female, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00359598	-	-	-	M	no	Morocco	-	-	-	-	-	LHON	acute painless vision loss	MT-ND5	MT-ND5	1	1	Daniele Ghezzi
00359599	-	-	-	M	no	Italy	-	-	-	-	-	LHON	Optic neuropathy HP:0001138	MT-ND5	MT-ND5	1	1	Daniele Ghezzi
00359600	-	-	-	M	no	Italy	-	-	-	-	-	LHON	Optic neuropathy HP:0001138	MT-ND1	MT-ND1	1	1	Daniele Ghezzi
00359601	-	-	-	M	?	Italy	-	-	-	-	-	LHON	Optic neuropathy HP:0001138 Visual loss HP:0000572	MT-ND6	-	1	1	Daniele Ghezzi
00359602	-	-	-	M	no	Italy	-	-	-	-	-	LHON	Optic neuropathy HP:0001138 Visual loss HP:0000572	-	MT-ND3	1	1	Daniele Ghezzi
00418409	LHON 59 (1316)	PubMed: Kieninger 2022	2-generation family, 2 affected brothers	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	2	Johan den Dunnen
00418410	LHON 59 (1824)	PubMed: Kieninger 2022	brother of LHON 59 (1316)	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418411	LHON 84	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418412	LHON 96	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	2	1	Johan den Dunnen
00418413	LHON 210	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418414	LHON 238	PubMed: Kieninger 2022	-	F	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418415	LHON 246	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418416	LHON 286	PubMed: Kieninger 2022	-	F	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418417	LHON 347	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418418	LHON 377	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418419	LHON 380	PubMed: Kieninger 2022	-	M	-	Germany	Arab	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418420	LHON 466	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418421	LHON 507	PubMed: Kieninger 2022	-	F	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418422	LHON 526	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418423	LHON 573	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	2	1	Johan den Dunnen
00418424	LHON 582	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418425	LHON 600	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418426	LHON 606	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418427	LHON 612	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418428	LHON 749 (12040)	PubMed: Kieninger 2022	2-generation family, 2 affected twin brothers	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	2	Johan den Dunnen
00418429	LHON 749 (14508)	PubMed: Kieninger 2022	twin of LHON 749 (12040)	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418430	LHON 760	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418431	LHON 785	PubMed: Kieninger 2022	-	F	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418432	LHON 895	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418433	LHON 1076	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418434	LHON 1088	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418435	LHON 1089	PubMed: Kieninger 2022	-	F	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418436	LHON 1129	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418437	LHON 1149	PubMed: Kieninger 2022	-	M	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	2	1	Johan den Dunnen
00418444	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418445	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418446	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418447	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418448	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418449	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418450	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418451	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418452	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418453	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418454	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418455	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418456	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418457	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen
00418458	-	PubMed: Kieninger 2022	-	-	-	Germany	-	-	-	-	-	LHON	-	DNAJC30	DNAJC30	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

OCLM (oculomedin)