Disease #05684 (neuropathy, optic (neuropathy, optic))

Official abbreviation	neuropathy, optic
Name	neuropathy, optic
OMIM ID	-
Inheritance	-
Individuals reported having this disease	314
Phenotype entries for this disease	298
Associated with 8 genes	ACO2, DNM1L, MFN2, NR2F1, OPA1, RTN4IP1, SPG7, SSBP1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2020-01-10 11:57:41 +01:00 (CET)
Date last edited	2021-02-19 09:59:43 +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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Operator	Column type	Example	Matches
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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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combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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314 entries on 4 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
00065277	Family I, II-3	PubMed: Angebault 2015 PubMed: Meunier 2020	Patient II-3 from Family I: 2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	yes	Morocco	-	>45y	-	-	-	neuropathy, optic	Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Central scotoma (HP:0000603); Cerulean cataract (HP:0007976); Abnormal flash visual evoked potentials (HP:0007928); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843)	RTN4IP1	RTN4IP1	1	2	Pieter Klap
00065278	Family I, II-4	PubMed: Angebault 2015	Brother of Patient II4	M	yes	Morocco	-	>52y	-	-	-	neuropathy, optic	Severely reduced visual acuity (HP:0001141); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)	RTN4IP1	RTN4IP1	1	1	Pieter Klap
00065279	Family II, II-1	PubMed: Angebault 2015	Patient II-1 from Family II: 2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	France	Romani	>25y	-	-	-	neuropathy, optic	Moderately reduced visual acuity (HP:0030515); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Centrocecal scotoma (HP:0000576)	RTN4IP1	RTN4IP1	1	1	Pieter Klap
00065280	Family III, II-5 (2015) / Family 2, II-5 (2020)	PubMed: Angebault 2015 PubMed: Meunier 2020	Patient named as Family III, II-5 in article by Angebault et al. (2015), and as Family 2, II-5 in article by Meunier et al. (2020): 2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	France	Romani	>23y	-	-	-	neuropathy, optic	Moderately reduced visual acuity (HP:0030515); Nyctalopia (HP:0000662); Rod-cone dystrophy (HP:0000510); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Red-green dyschromatopsia (HP:0000642); Ring scotoma (HP:0030529); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479); Abnormal timing of light-adapted flicker electroretinogram (HP:0030480)	RTN4IP1	RTN4IP1	1	1	Pieter Klap
00065281	Family IV, II-2 (2015) / Family 4, II-2 (2020)	PubMed: Angebault 2015 PubMed: Meunier 2020	Patient named as Family IV, II-2 in article by Angebault et al. (2015), and as Family 4, II-2 in article by Meunier et al. (2020): 2-generation family, 2 sisters, unaffected heterozygous carrier parents	F	no	-	-	>14y	-	-	-	neuropathy, optic	Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Hypoplasia of the optic tract (HP:0007096); Ataxia (HP:0001251); Intellectual disability (HP:0001249); Generalized myoclonic seizure (HP:0002123)	RTN4IP1	RTN4IP1	2	2	Pieter Klap
00065282	Family IV, II-3 (2015) / Family 4, II-3 (2020)	PubMed: Angebault 2015 PubMed: Meunier 2020	Patient named as Family IV, II-3 in article by Angebault et al. (2015), and as Family 4, II-3 in article by Meunier et al. (2020)	F	no	-	-	>12y	-	-	-	neuropathy, optic	Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Hypoplasia of the optic tract (HP:0007096); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Ataxia (HP:0001251); Intellectual disability (HP:0001249)	RTN4IP1	RTN4IP1	2	1	Pieter Klap
00225645	Sibling 1	PubMed: Kelman 2018	3-generation family, 1 carrier, 2 affected	M	no	-	-	-	-	-	-	neuropathy, optic, OPA, blindness	Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT	ACO2	ACO2	2	1	Thomas Foulonneau
00225646	Sibling 2	PubMed: Kelman 2018	3-generation family, 1 carrier, 2 affected	M	no	-	-	-	-	-	-	neuropathy, optic, OPA, blindness	Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma (HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551)	ACO2	ACO2	2	1	Thomas Foulonneau
00225647	Patients 1 and 2	PubMed: Metodiev 2014	2 affected	M	?	France	-	-	-	-	-	neuropathy, optic, blindness	Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528)	ACO2	ACO2	2	2	Thomas Foulonneau
00275687	-	-	-	-	-	-	-	-	-	-	-	neuropathy, optic	-	-	-	-	1	Marc Ferre
00275688	-	-	-	-	-	-	-	-	-	-	-	neuropathy, optic	-	ACO2	-	-	1	Marc Ferre
00275689	-	-	-	-	-	-	-	-	-	-	-	neuropathy, optic	-	-	-	-	1	Marc Ferre
00275985	-	Journal: Charif 2021	-	F	-	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00275991	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00275992	-	Journal: Charif 2021	3 generation, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Amblyopia (HP:0000646); Esodeviation (HP:0020045); Nystagmus (HP:0000639)	ACO2	ACO2	1	3	Khadidja Guehlouz
00275993	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	Amblyopia (HP:0000646)	ACO2	ACO2	1	1	Khadidja Guehlouz
00275994	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00275995	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00275996	-	Journal: Charif 2021	2 generation, 2 carriers, 1 affected	M	no	France	-	-	-	-	-	neuropathy, optic	Diabetes insipidus (HP:0000873); Optic atrophy (HP:0000648); Exercise intolerance (HP:0003546)	ACO2	ACO2	1	2	Khadidja Guehlouz
00276060	-	Journal: Charif 2021	3 generation, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	3	Khadidja Guehlouz
00276061	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00276062	-	Journal: Charif 2021	3 generations, 4 carriers, 2 affected	M	no	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	3	Khadidja Guehlouz
00276063	-	Journal: Charif 2021	2 generations, 2 carriers, 1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Macular dystrophy (HP:0007754); Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00276064	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00276065	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00276066	-	Journal: Charif 2021	2 generations, 2 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	2	Khadidja Guehlouz
00276072	-	Journal: Charif 2021	2 generation, 2 carriers, 1 affected	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	2	Khadidja Guehlouz
00276121	-	Journal: Charif 2021	2 generations, 2 carriers, 1 affected	M	?	Pakistan	-	-	-	-	-	neuropathy, optic	Abnormal retinal morphology on macular OCT (HP:0030612)	ACO2	ACO2	1	2	Khadidja Guehlouz
00276122	-	Journal: Charif 2021	-	F	-	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00276128	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	High myopia (HP:0011003); Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00276130	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00276131	-	Journal: Charif 2021	2 generations, 1 carrier, 1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00276132	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00276133	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00276135	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00276136	-	Journal: Charif 2021	2 generation, 2 carriers, 2 affected (son affected)	F	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00276351	-	Journal: Charif 2021	-	F	?	Italy	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00276352	-	Journal: Charif 2021	2 generations, 2 carriers, 2 affected	F	-	Italy	-	-	-	-	-	neuropathy, optic	Congenital nystagmus (HP:0006934); Exotropia (HP:0000577); Migraine (HP:0002076); Scotoma (HP:0000575); Oculus dexter superonasal scotoma	ACO2	ACO2	1	1	Khadidja Guehlouz
00276354	-	Journal: Charif 2021	1 generation, 1 carrier, 1 affected (4 siblings don't affected and don't carry the variant)	F	?	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00276355	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00276356	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00281820	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00281821	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00281823	-	Journal: Charif 2021	2 generations, 3 carriers, 2 affected (paternal)	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	3	Khadidja Guehlouz
00286161	-	Journal: Charif 2021	-	F	?	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00286162	-	Journal: Charif 2021	-	F	?	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00286175	-	Journal: Charif 2021	-	F	?	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00286177	-	Journal: Charif 2021	3 generations, 3 carriers, 3 affected	M	?	Spain	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00286182	-	Journal: Charif 2021	2 generations, 2 carriers, 2 affected	M	?	Italy	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00286183	-	Journal: Charif 2021	2 generations, 2 carriers, 1 affected	M	?	Italy	-	-	-	-	-	neuropathy, optic	Ptosis (HP:0000508)	ACO2	ACO2	1	1	Khadidja Guehlouz
00286184	-	Journal: Charif 2021	-	F	?	Italy	-	-	-	-	-	neuropathy, optic	Glaucoma (HP:0000501)	ACO2	ACO2	1	1	Khadidja Guehlouz
00286185	-	Journal: Charif 2021	-	M	-	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00286188	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	Abnormal macular morphology (HP:0001103)	ACO2	ACO2	1	1	Khadidja Guehlouz
00286190	-	Journal: Charif 2021	-	F	-	Germany	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	2	1	Khadidja Guehlouz
00286191	-	Journal: Charif 2021	-	M	?	England	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	2	1	Khadidja Guehlouz
00286196	-	Journal: Charif 2021	2 generations, 4 carriers, 1 affected	F	?	Italy	-	-	-	-	-	neuropathy, optic	Cystoid macular degeneration (HP:0008028)	ACO2	ACO2	2	1	Khadidja Guehlouz
00287171	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	Abnormal macular morphology (HP:0001103); Mycrocyst	ACO2	ACO2	1	1	Khadidja Guehlouz
00287172	-	Journal: Charif 2021	2 generations, 2 carriers, 2 affected	M	-	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00287363	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00287364	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	Mitral valve prolapse (HP:0001634); Abnormal macular morphology (HP:0001103); Renal cortical microcysts (HP:0004734)	ACO2	ACO2	1	1	Khadidja Guehlouz
00287366	-	Journal: Charif 2021	2 generations, 2 carriers (daughter), 1 affected	F	-	France	-	-	-	-	-	neuropathy, optic	Increased blood pressure (HP:0032263); Hyperglycemia (HP:0003074); Abdominal obesity (HP:0012743); Abnormal circulating cholesterol concentration (HP:0003107); Metabolic syndrome	ACO2	ACO2	1	2	Khadidja Guehlouz
00287971	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00287972	-	Journal: Charif 2021	3 generations, 4 carriers, 2 affected	M	no	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	4	Khadidja Guehlouz
00287973	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00287974	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	Macular dystrophy (HP:0007754)	ACO2	ACO2	1	1	Khadidja Guehlouz
00287975	-	Journal: Charif 2021	2 generations,2 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00287976	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00287979	-	Journal: Charif 2021	2 generations, 3 carriers (Both non affected parents are heterozygous for each variant),1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648); Seizures (HP:0001250); Memory impairment (HP:0002354)	ACO2	ACO2	2	1	Khadidja Guehlouz
00287980	-	Journal: Charif 2021	1 generation, 3 carriers, 1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00287981	-	Journal: Charif 2021	2 generations, 3 carriers (both non affected parents are heterozygous for each variant), 1 affected	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	2	1	Khadidja Guehlouz
00287982	-	Journal: Charif 2021	4 generations,1 carrier, 1 affected	M	no	France	-	-	-	-	-	neuropathy, optic	Nystagmus (HP:0000639); Ataxia (HP:0001251); Abnormal cerebellum morphology (HP:0001317); Peripheral neuropathy (HP:0009830); Dysarthria (HP:0001260)	ACO2	ACO2	2	1	Khadidja Guehlouz
00288886	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00288887	-	Journal: Charif 2021	Both non affected parents are HTZ for each variant	F	?	France	-	00y-02y	-	-	-	neuropathy, optic	-	ACO2	ACO2	2	1	Khadidja Guehlouz
00288888	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	2	1	Khadidja Guehlouz
00288889	-	Journal: Charif 2021	2 generations, 5 carriers, 4 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	2	5	Khadidja Guehlouz
00288890	-	Journal: Charif 2021	2 generations, 2 carriers, 1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	2	2	Khadidja Guehlouz
00288891	-	Journal: Charif 2021	Non affected mother are heterozygous for one variant	F	?	Italy	-	-	-	-	-	neuropathy, optic	Anorexia (HP:0002039); Migraine (HP:0002076)	ACO2	ACO2	2	1	Khadidja Guehlouz
00288892	-	Journal: Charif 2021	2 generations, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00288893	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00288894	-	Journal: Charif 2021	1 generation, 2 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00288895	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	Amblyopia (HP:0000646); Peripheral neuropathy (HP:0009830); Hypertension (HP:0000822)	ACO2	ACO2	2	1	Khadidja Guehlouz
00288896	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	Peripheral neuropathy (HP:0009830); Ataxia (HP:0001251); Spastic paraparesis (HP:0002313)	ACO2	ACO2	1	1	Khadidja Guehlouz
00288897	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00288898	-	Journal: Charif 2021	father with optic disc pallor but NO DNA	M	?	France	-	-	-	-	-	neuropathy, optic	Amblyopia (HP:0000646)	ACO2	ACO2	1	1	Khadidja Guehlouz
00288899	-	Journal: Charif 2021	mother and daughter affected but no DNA	M	?	France	-	-	-	-	-	neuropathy, optic	Retrobulbar optic neuritis (HP:0100654); Scoliosis (HP:0002650)	ACO2	ACO2	2	1	Khadidja Guehlouz
00289017	-	Journal: Charif 2021	3 generations, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289018	-	Journal: Charif 2021	3 generations, 3 carriers, 2 affected ( son and grandson)	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289019	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	Hypertension (HP:0000822); Renal insufficiency (HP:0000083)	ACO2	ACO2	1	1	Khadidja Guehlouz
00289020	-	Journal: Charif 2021	2 generations, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289021	-	Journal: Charif 2021	2 generations, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289022	-	Journal: Charif 2021	3 generations, 4 carriers,2 affected	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289023	-	Journal: Charif 2021	3 generations, 4 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289024	-	Journal: Charif 2021	2 generations, 5 carriers, 4 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	2	1	Khadidja Guehlouz
00289025	-	Journal: Charif 2021	2 generations, 5 carriers, 4 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	2	1	Khadidja Guehlouz
00289027	-	Journal: Charif 2021	2 generations, 5 carriers, 4 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289028	-	Journal: Charif 2021	2 generations, 5 carriers, 4 affected	F	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289029	-	Journal: Charif 2021	2 generations, 2 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	ACO2	ACO2	1	1	Khadidja Guehlouz
00289030	-	Journal: Charif 2021	2 generations, 2carriers,1 affected (son)	F	?	Pakistan	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289031	-	Journal: Charif 2021	2 generations, 2 carriers,1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz
00289032	-	Journal: Charif 2021	2 generations, 2 carriers, 1 affected (son)	F	-	France	-	-	-	-	-	neuropathy, optic	-	ACO2	ACO2	1	1	Khadidja Guehlouz

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Global Variome shared LOVD

DMD (dystrophin)