Global Variome shared LOVD
RTN4IP1 (reticulon 4 interacting protein 1)
LOVD v.3.0 Build 29 [
Current LOVD status
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Curator:
Marc Ferre
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All individuals with variants in gene RTN4IP1
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
48 entries on 1 page. Showing entries 1 - 48.
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Legend
How to query
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
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)
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)
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)
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)
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)
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)
2
1
Pieter Klap
00327002
Patient I
PubMed: Okamoto 2017
-
M
no
Japan
-
-
-
-
-
neuropathy, optic
Very low visual acuity (HP:0032122); Dyschromatopsia (HP:0007641); Congenital nystagmus (HP:0006934); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Severe constriction of peripheral visual field (HP:0030526); Seizure (HP:0001250); Neurodevelopmental delay (HP:0012758); Lactic acidosis (HP:0003128)
2
2
Aude Rocatcher
00327590
Patient II
PubMed: Okamoto 2017
-
M
no
Japan
-
-
-
-
-
neuropathy, optic
Very low visual acuity (HP:0032122); Dyschromatopsia (HP:0007641); Congenital nystagmus (HP:0006934); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Severe constriction of peripheral visual field (HP:0030526); Mild global developmental delay (HP:0011342)
2
1
Aude Rocatcher
00327591
Proband II1
PubMed: Zou 2019
-
F
no
China
-
-
-
-
-
neuropathy, optic
Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Increased theta frequency activity in EEG (HP:0031535); EEG with focal epileptiform discharges (HP:0011185); Intellectual disability (HP:0001249); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128)
2
2
Aude Rocatcher
00327592
Proband II2
PubMed: Zou 2019
-
M
no
China
-
-
-
-
-
neuropathy, optic
Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Increased theta frequency activity in EEG (HP:0031535); EEG with focal epileptiform discharges (HP:0011185); Intellectual disability (HP:0001249); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128)
2
1
Aude Rocatcher
00327593
Family 1
PubMed: Charif 2018
-
M
yes
France
Romani
-
-
-
-
neuropathy, optic
Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Strabismus (HP:0000486); Photophobia (HP:0000613); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249)
1
1
Aude Rocatcher
00327615
Family 2-1
PubMed: Charif 2018
-
F
yes
France
Romani
-
-
-
-
neuropathy, optic
Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)
1
2
Aude Rocatcher
00327616
Family 2-2
PubMed: Charif 2018
-
F
yes
France
Romani
-
-
-
-
neuropathy, optic
Very low visual acuity (HP:0032122); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);
1
1
Aude Rocatcher
00327617
Family 3
PubMed: Charif 2018
-
M
yes
France
Romani
-
-
-
-
neuropathy, optic
Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649)
1
1
Aude Rocatcher
00327618
Family 4
PubMed: Charif 2018
-
M
yes
France
Romani
-
-
-
-
neuropathy, optic
Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649)
1
1
Aude Rocatcher
00327901
Family 5
PubMed: Charif 2018
-
F
yes
France
Maghrebian
-
-
-
-
neuropathy, optic
Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Red-green dyschromatopsia (HP:0000642)
1
1
Aude Rocatcher
00327902
Family 6
PubMed: Charif 2018
-
F
no
Mauritius
Mauritius father of Irish/Pakistani descent; mother of Indian descent
-
-
-
-
neuropathy, optic
Severely reduced visual acuity (HP:0001141); Sudden loss of visual acuity (HP:0001117); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Strabismus (HP:0000486); Abnormality of visual evoked potentials (HP:0000649); Red-green dyschromatopsia (HP:0000642); Nystagmus (HP:0000639)
2
1
Aude Rocatcher
00327904
Family 7
PubMed: Charif 2018
Ophthalmological examination not performed
M
yes
Pakistan
-
-
-
-
-
neuropathy, optic
Seizure (HP:0001250); Postnatal growth retardation (HP:0008897); Severe global developmental delay (HP:0011344); Lactic acidosis (HP:0003128); Feeding difficulties (HP:0011968); Seizure precipitated by febrile infection (HP:0032894); Bilateral tonic-clonic seizure (HP:0002069); Developmental regression (HP:0002376)
1
1
Aude Rocatcher
00328345
Family 8
PubMed: Charif 2018
-
F
yes
Iran
-
-
-
-
-
neuropathy, optic
Progressive visual loss (HP:0000529); Blindness (HP:0000618); Vertical nystagmus (HP:0010544); Photophobia (HP:0000613); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Global developmental delay (HP:0001263); Intellectual disability, severe (HP:0010864); Lower limb spasticity (HP:0002061); Gait ataxia (HP:0002066); Neonatal hypotonia (HP:0001319)
1
1
Aude Rocatcher
00328347
Family 9
PubMed: Charif 2018
-
M
no
Italy
-
-
-
-
-
neuropathy, optic
Poor visual behavior for age (HP:0025152); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Global developmental delay (HP:0001263); Intellectual disability, severe (HP:0010864); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128); Spastic tetraparesis (HP:0001285); Arm dystonia (HP:0031960); Sensory axonal neuropathy (HP:0003390); Generalized-onset seizure (HP:0002197); EEG abnormality (HP:0002353); Abnormal auditory evoked potentials (HP:0006958); Abnormality of visual evoked potentials (HP:0000649); Abnormal thalamic MRI signal intensity (HP:0012696); Abnormal brainstem MRI signal intensity (HP:0012747)
2
1
Aude Rocatcher
00328438
Family 10
PubMed: Charif 2018
-
M
no
Italy
-
<05y
-
-
-
neuropathy, optic
Poor visual behavior for age (HP:0025152); Optic disc pallor (HP:0000543); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Eyelid myoclonias (HP:0011168); Stridor (HP:0010307); Neonatal hypotonia (HP:0001319); Severe global developmental delay (HP:0011344); Seizure (HP:0001250); EEG with burst suppression (HP:0010851); Cerebral atrophy (HP:0002059); Elevated brain lactate level by MRS (HP:0012707)
1
1
Aude Rocatcher
00328440
Family 11
PubMed: Charif 2018
Ophthalmological examination not performed
F
no
-
-
<01y
-
-
-
neuropathy, optic
Uncontrolled eye movements (HP:0007738); Decreased fetal movement (HP:0001558); Feeding difficulties (HP:0011968); Stridor (HP:0010307); Failure to thrive (HP:0001508); Lactic acidosis (HP:0003128); Hyperalaninemia (HP:0003348); Abnormal basal ganglia MRI signal intensity (HP:0012751); EEG with centrotemporal focal spike waves (HP:0012557)
2
1
Aude Rocatcher
00328817
Family 3, II-4
PubMed: Meunier 2020
-
M
yes
France
Romani
-
-
-
-
neuropathy, optic
Ultra-low vision with retained motion projection (HP:0032284); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Ring scotoma (HP:0030529); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843)
1
3
Aude Rocatcher
00328818
Family 3, II-5
PubMed: Meunier 2020
-
M
yes
France
Romani
-
-
-
-
neuropathy, optic
Ultra-low vision with retained light perception (HP:0032286); Nystagmus (HP:0000639); Photophobia (HP:0000613); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Bone spicule pigmentation of the retina (HP:0007737); Macular edema (HP:0040049); Undetectable light- and dark-adapted electroretinogram (HP:0007688); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Severe constriction of peripheral visual field (HP:0030526)
1
1
Aude Rocatcher
00328823
Family 3, III-2
PubMed: Meunier 2020
-
F
yes
France
Romani
-
-
-
-
neuropathy, optic
Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Attenuation of retinal blood vessels (HP:0007843); Bone spicule pigmentation of the retina (HP:0007737); Ring scotoma (HP:0030529); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629)
1
1
Aude Rocatcher
00328828
-
PubMed: Giacomini 2020
-
M
no
Italy
-
-
-
-
-
neuropathy, optic
Severely reduced visual acuity (HP:0001141); Horizontal nystagmus (HP:0000666); High myopia (HP:0011003); Alternating esotropia (HP:0001137); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Intellectual disability, mild (HP:0001256); Neutropenia, mild (HP:0001875); Leukopenia (HP:0001882); Hearing impairment (HP:0000365); Chorea (HP:0002072); Dysarthria (HP:0001260); Periventricular heterotopia (HP:0007165)
1
1
Aude Rocatcher
00328831
-
PubMed: D'Gama 2021
-
M
no
-
-
-
-
-
-
neuropathy, optic
Neonatal respiratory distress (HP:0002643); Nasogastric tube feeding in infancy (HP:0011470); Horizontal nystagmus (HP:0000666); High hypermetropia (HP:0008499); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Infantile axial hypotonia (HP:0009062); Limb hypertonia (HP:0002509); Ataxia (HP:0001251); Choreoathetosis (HP:0001266); Focal T2 hypointense basal ganglia lesion (HP:0012752); Focal hyperintensity of cerebral white matter on MRI (HP:0040328); Decreased thalamic volume (HP:0012695); Short stature (HP:0004322); Macrocephaly (HP:0000256); High palate (HP:0000218); Wide intermamillary distance (HP:0006610); Reduced tendon reflexes (HP:0001315); Oral-pharyngeal dysphagia (HP:0200136); Lactic acidosis (HP:0003128); Elevated lactate:pyruvate ratio (HP:0032653); Developmental regression (HP:0002376); Increased size of nasopharyngeal adenoids (HP:0040261); Bilateral tonic-clonic seizure (HP:0002069); Focal-onset seizure (HP:0007359); Interictal epileptiform activity (HP:0011182); EEG with generalized slow activity (HP:0010845);
2
1
Aude Rocatcher
00328832
-
PubMed: Rajabian 2021
-
F
no
Italy
-
-
-
-
-
neuropathy, optic
Severely reduced visual acuity (HP:0001141); Progressive visual loss (HP:0000529); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Photoreceptor layer loss on macular OCT (HP:0030609); Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
2
1
Aude Rocatcher
00329130
-
PubMed: Li 2020
-
?
-
China
-
-
-
-
-
neuropathy, optic
Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);
1
1
Aude Rocatcher
00329131
-
PubMed: Li 2020
-
?
?
China
-
-
-
-
-
neuropathy, optic
Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);
1
1
Aude Rocatcher
00329132
-
PubMed: Li 2020
-
?
?
China
-
-
-
-
-
neuropathy, optic
Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)
1
1
Aude Rocatcher
00333367
-
Angers (under submission)
-
F
yes
France
-
-
-
-
-
neuropathy, optic
Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249)
1
3
Aude Rocatcher
00333368
-
Angers (under submission)
-
M
yes
France
-
-
-
-
-
neuropathy, optic
Mildly reduced visual acuity (HP:0032037); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)
1
1
Aude Rocatcher
00333369
-
Angers (under submission)
-
F
yes
France
-
-
-
-
-
neuropathy, optic
Moderately reduced visual acuity (HP:0030515); Red-green dyschromatopsia (HP:0000642); Central scotoma (HP:0000603); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249)
1
1
Aude Rocatcher
00333371
-
Angers (under submission)
-
F
no
France
-
-
-
-
-
neuropathy, optic
Moderately reduced visual acuity (HP:0030515); Tritanomaly (HP:0000552); Centrocecal scotoma (HP:0000576); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)
1
1
Aude Rocatcher
00333372
-
Angers (under submission)
-
M
no
France
-
-
-
-
-
neuropathy, optic
Moderately reduced visual acuity (HP:0030515); Rotary nystagmus (HP:0001583); Central scotoma (HP:0000603); Retinal vascular tortuosity (HP:0012841); Hypoplasia of the fovea (HP:0007750); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Open bite (HP:0010807); Macroglossia (HP:0000158)
2
1
Aude Rocatcher
00333378
-
Angers (under submission)
-
M
no
-
-
-
-
-
-
neuropathy, optic
Reduced visual acuity (HP:0007663); Optic neuropathy (HP:0001138); Exodeviation (HP:0020049)
1
1
Aude Rocatcher
00333379
-
Angers (under submission)
-
M
no
France
-
-
-
-
-
neuropathy, optic
Optic neuropathy (HP:0001138)
2
1
Aude Rocatcher
00333380
-
Angers (under submission)
-
F
no
France
-
-
-
-
-
neuropathy, optic
Moderately reduced visual acuity (HP:0030515); Photophobia (HP:0000613); Central scotoma (HP:0000603); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)
1
1
Aude Rocatcher
00359431
-
Angers (under submission)
-
M
no
New Caledonia
-
-
-
-
-
neuropathy, optic
-
1
1
Aude Rocatcher
00426910
14_16
PubMed: Zhu 2022
family 14, individual 16
M
-
-
-
-
-
-
-
retinal disease
-
1
1
LOVD
00430769
Fam1PatII2(Pat1)
PubMed: Aldosary 2022
family, 3 affected
F
yes
Saudi Arabia
-
-
-
-
-
neuropathy, optic
Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Abnormal pupillary light reflex (HP:0007695); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Bulbous nose (HP:0000414); Microtia (HP:0008551); Hypertelorism (HP:0000316); Thick upper lip vermilion (HP:0000215); Short philtrum (HP:0000322); Eczema (HP:0000964); Seizure (HP:0001250); Bilateral tonic-clonic seizure (HP:0002069); Focal impaired awareness seizure (HP:0002384); Elevated brain lactate level by MRS (HP:0012707); EEG abnormality (HP:0002353)
1
3
Aude Rocatcher
00430770
Fam1PatII1(Pat2)
PubMed: Aldosary 2022
-
F
yes
Saudi Arabia
-
-
-
-
-
neuropathy, optic
Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Ataxia (HP:0001251); Unsteady gait (HP:0002317); Delayed speech and language development (HP:0000750); Cognitive impairment (HP:0100543); Moderate global developmental delay (HP:0011343); Loss of ambulation (HP:0002505); Seizure (HP:0001250); EEG with focal spikes (HP:0011193)
1
1
Aude Rocatcher
00430771
FamPatII4(Pat3)
PubMed: Aldosary 2022
-
M
yes
Saudi Arabia
-
-
-
-
-
neuropathy, optic
Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Ataxia (HP:0001251); Seizure (HP:0001250); Elevated brain lactate level by MRS (HP:0012707)
1
1
Aude Rocatcher
00430772
Fam2PatII1(Pat4)
PubMed: Aldosary 2022
family, 3 affected
M
yes
Saudi Arabia
-
-
-
-
-
neuropathy, optic
Global developmental delay (HP:0001263); Seizure (HP:0001250); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced brain lactate level by MRS (HP:0025046)
1
3
Aude Rocatcher
00430773
Fam2PatII2(Pat5)
PubMed: Aldosary 2022
-
F
yes
Saudi Arabia
-
-
-
-
-
neuropathy, optic
Nystagmus (HP:0000639); Seizure (HP:0001250); EEG with focal spikes (HP:0011193); EEG with focal slow activity (HP:0010843); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Elevated brain lactate level by MRS (HP:0012707)
1
1
Aude Rocatcher
00430774
Fam2PatII3(Pat6)
PubMed: Aldosary 2022
-
M
yes
Saudi Arabia
-
-
-
-
-
neuropathy, optic
Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Elevated brain lactate level by MRS (HP:0012707)
1
1
Aude Rocatcher
00431008
-
PubMed: Jurkute 2022
-
M
no
United Kingdom (Great Britain)
-
-
-
-
-
neuropathy, optic
Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure precipitated by febrile infection (HP:0032894); Abnormality of visual evoked potentials (HP:0000649); Severely reduced visual acuity (HP:0001141); Dyschromatopsia (HP:0007641); Abnormal Ishihara plate test (HP:0030586); Myopic astigmatism (HP:0500041); Temporal optic disc pallor (HP:0012511)
2
1
Aude Rocatcher
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