All individuals with variants in gene ACO2

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.

132 entries on 2 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	Variants	Panel size	Owner
00073156	-	ATX372	-	F	-	France	-	-	-	-	-	SCAR	-	1	1	Claire Guissart
00176985	69986	-	-	F	no	Switzerland	-	-	-	-	-	EE	, Muscular hypotonia of the trunk (HP:0008936); Spastic paraparesis (HP:0002313); Horizontal pendular nystagmus (HP:0007811); Esotropia (HP:0000565); Abnormality of ocular smooth pursuit (HP:0000617)	2	1	Anaïs Begemann
00225621	IV-1	PubMed: Bouwkamp 2018	4-generation family, 3 carriers, 2 affected	M	yes	Israel	Arab-Bedouin descent	-	-	-	-	SPG	Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability severe (HP:0010864); Lower limb muscle weakness (HP:0007340); Spastic paraplegia (HP:0001258); Hyperreflexia (HP:0001347); Dysarthria (HP:0001260); Seizures (HP:0001250); Microcephaly (HP:0000252); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Inguinal hernia (HP:0000023); Recurrent otitis media (HP:0000403)	1	1	Thomas Foulonneau
00225632	IV-3	PubMed: Bouwkamp2018	4-generation family, 4 carriers, 2 affected	F	yes	Israel	Arab bedouin descent	-	-	-	-	SPG	Microcephaly (HP:0000252); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability, mild (HP:0001256); Spastic paraplegia (HP:0001258); Lower limb muscle weakness (HP:0007340); Hyperreflexia (HP:0001347); Impaired vibration sensation in the lower limbs (HP:0002166); Behavioral abnormality (HP:0000708); Developmental regression (HP:0002376); Horizontal nystagmus (HP:0000666); Encephalopathy(HP:0001298); Syndactyly (HP:0001159); Hyperlordosis (HP:0003307); Equinovarus deformity (HP:0008110); Limited pronation/supination of forearm (HP:0006394); Abnormality of the cerebral white matter (HP:0002500); Acute mental change	1	1	Thomas Foulonneau
00225634	-	PubMed: Sadat 2016	1 affected	M	no	-	Mixed Afro-Caribbean and East indian ancestry	-	-	-	-	encephalomyopathy, mitochondrial	Ataxia (HP:0001251); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Profound global developmental delay (HP:0012736); Sensorineural hearing impairment (HP:0000407); Abnormal saccadic eye movements (HP:0000570); Abnormal facial shape/dysmorphic facial features (HP:0001999); Muscular hypotonia (HP:0001252); Myoclonus (HP:0001336)	2	1	Thomas Foulonneau
00225635	-	PubMed: Srivastava 2017	1 affected	M	?	-	European	-	-	-	-	RDEOA	Ataxia (HP:0001251); Seizures (HP:0001250); Dysarthria (HP:0001260); Peripheral neuropathy (HP:0009830); Motor delay (HP:0001270); Short stature (HP:0004322); Bifid uvula (HP:0000193); Submucous cleft palate (HP:0011819); Optic atrophy (HP:0000648); Pigmentary retinopathy(HP:0000580); Blindness (HP:0000618); Delayed speech and language development (HP:0000750); Esotropia (HP:0000565); Nystagmus (HP:0000639); Muscular hypotonia of the trunk (HP:0008936); Appendicular hypertonia	2	1	Thomas Foulonneau
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	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)	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)	2	2	Thomas Foulonneau
00225648	Patient 3	PubMed: Metodiev 2014	2 affected	M	yes	Algeria	-	00y02m?	-	-	-	ENC	Central apnoea (HP:0000961); Cyanosis (HP:0002871); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Metabolic acidosis (HP:0001942); Hyperglycemia (HP:0003074); Coma (HP:0001259); Bilateral oedema of optic disks	1	1	Thomas Foulonneau
00225649	Patient 4	PubMed: Metodiev 2014	2 affected	M	yes	Algeria	-	00y02m?	-	-	-	encephalopathy, neonatal, severe	Central apnoea (HP:0000961); Cerebral atrophy (HP:0002059); Bradycardia (HP:0001662); Abnormality of eye movement (HP:0000496); Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Vertigo/dizziness (HP:0002321)	1	1	Thomas Foulonneau
00225650	Patient 5	PubMed: Metodiev 2014	2-generation family, 1affected	F	no	-	-	-	-	-	-	encephalopathy, neonatal, severe	Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Bilateral Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Global developmental delay (HP:0001263); Nystagmus (HP:0000639); Poor eye contact (HP:0000817); Abnormal saccadic eye movements (HP:0000570)	1	1	Thomas Foulonneau
00226238	F3-P1	PubMed: Abela 2017	2 affected	F	?	Israel	Arab	-	-	-	-	EE	Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Cerebellar atrophy (HP:0001272); Sensorineural hearing impairment (HP:0000407); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500)	1	1	Thomas Foulonneau
00226239	F3-P2	PubMed: Abela2017	2 affected	F	?	Israel	Arab	-	-	-	-	EE	Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Cerebellar atrophy (HP:0001272); Failure to thrive (HP:0001508); Seizures (HP:0001250)	1	1	Thomas Foulonneau
00226240	F4-P1	PubMed: Abela 2017	1 affected	F	?	-	white	-	-	-	-	EE	Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Failure to thrive (HP:0001508); Seizures (HP:0001250); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Cerebellar atrophy (HP:0001272)	2	1	Thomas Foulonneau
00226241	Family A IV-3	PubMed: Spiegel 2012	5-generation family, 8 affected, 3 death	M	yes	Israel	Arab muslim origin	-	-	-	-	ICRD	Athetosis (HP:0002305); Areflexia (HP:0001284); Strabismus (HP:0000486); Optic atrophy (HP:0000648); Failure to thrive (HP:0001508); Seizures (HP:0001250); Ataxia (HP:0001251); Profound global developmental delay (HP:0012736); Vegetative state (HP:0031358)	1	1	Thomas Foulonneau
00226242	Family A IV-5	PubMed: Spiegel 2012	5-generation family, 8 affected, 3 death	F	yes	Israel	Arab muslim origin	-	-	-	-	ICRD	Abnormality of the cerebral white matter (HP:0002500); Athetosis (HP:0002305); Intellectual disability (HP:0001249); Ataxia (HP:0001251); Seizures (HP:0001250); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Retinal dystrophy severe (HP:0000556); Cerebellar atrophy (HP:0001272); Hyperreflexia (HP:0001347); Scoliosis (HP:0002650); Profound global developmental delay (HP:0012736)	1	1	Thomas Foulonneau
00226243	Family A V-2	PubMed: Spiegel 2012	5-generation family, 8 affected, 3 death	F	yes	Israel	Arab muslim origin	-	-	-	-	ICRD	Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Profound global developmental delay (HP:0012736); Areflexia (HP:0001284); Nystagmus(HP:0000639); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Sensorineural hearing loss (HP:0000407)	1	1	Thomas Foulonneau
00226259	Family A V-5	PubMed: Spiegel 2012	5-generation family, 8 affected, 3 death	F	yes	Israel	Arab muslim origin	-	-	-	-	ICRD	Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Profound global developmental delay (HP:0012736); Sensorineural hearing impairment (HP:0000407); Areflexia (HP:0001284); Hyporeflexia/Reduced tendon reflexes( HP:0001315); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Sensorineural hearing impairment (HP:0000407); Aplasia/Hypoplasia of the cerebellum(HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500)	1	1	Thomas Foulonneau
00226260	Family A V-7	PubMed: Spiegel 2012	5-generation family, 8 affected, 3 death	M	yes	Israel	Arab muslim origin	-	-	-	-	ICRD	Strabismus (HP:0000486); Intellectual disability (HP:0001249); Ataxia (HP:0001251)	1	1	Thomas Foulonneau
00226261	Family B III-1	PubMed: Spiegel 2012	3-generation family, 3 affected	F	yes	Israel	Arab muslim origin	-	-	-	-	ICRD	Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Ataxia (HP:0001251); Profound global developmental delay (HP:0012736); Areflexia (HP:0001284); No eye contact (HP:0000817); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy (HP:0000648); ); Hypoplasia of the corpus callosum (HP:0002079)	1	1	Thomas Foulonneau
00226262	Family B III-2	PubMed: Spiegel 2012	3-generation family, 3 affected	F	yes	Israel	Arab muslim origin	-	-	-	-	ICRD	Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hyporeflexia/Reduced tendon reflexes (HP:0001315); Profound global developmental delay ( HP:0012736); Retinal dystrophy (HP:0000556); Nystagmus (HP:0000639); Ataxia (HP:0001251); Muscular hypotonia(HP:0001252); Optic atrophy (HP:0000648); No eye contact (HP:0000817)	1	1	Thomas Foulonneau
00226263	Family B III-3	PubMed: Spiegel 2012	3-generation family, 3 affected	F	yes	Israel	Arab muslim origin	-	-	-	-	ICRD	Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Cerebellar atrophy (HP:0001272); Profound global developmental delay ( HP:0012736); Areflexia (HP:0001284); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy(HP:0000648); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252)	1	1	Thomas Foulonneau
00239184	Fukada2019 patient	PubMed: Fukada 2019	2 carriers, 1 affected	F	no	Japan	japanese	05y	-	-	-	neurodegeneration	Seizures (HP:0001250); Ataxia (HP:0001251); Hypotonia (HP:0001290); Hyporeflexia of lower limbs (HP:0002600); Hyporeflexia of upper limbs (HP:0012391); Cerebral atrophy (HP :0002059); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hearing impairment (HP:0000365); Motor delay (HP:0001270); Nystagmus (HP:0000639)	2	1	Thomas Foulonneau
00275985	-	Journal: Charif 2021	-	F	-	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00275991	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	-	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)	1	3	Khadidja Guehlouz
00275993	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	Amblyopia (HP:0000646)	1	1	Khadidja Guehlouz
00275994	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00275995	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	-	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)	1	2	Khadidja Guehlouz
00276060	-	Journal: Charif 2021	3 generation, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	3	Khadidja Guehlouz
00276061	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	1	1	Khadidja Guehlouz
00276062	-	Journal: Charif 2021	3 generations, 4 carriers, 2 affected	M	no	France	-	-	-	-	-	neuropathy, optic	-	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)	1	1	Khadidja Guehlouz
00276064	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	1	1	Khadidja Guehlouz
00276065	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00276066	-	Journal: Charif 2021	2 generations, 2 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	2	Khadidja Guehlouz
00276072	-	Journal: Charif 2021	2 generation, 2 carriers, 1 affected	F	?	France	-	-	-	-	-	neuropathy, optic	-	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)	1	2	Khadidja Guehlouz
00276122	-	Journal: Charif 2021	-	F	-	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	1	1	Khadidja Guehlouz
00276128	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	High myopia (HP:0011003); Optic atrophy (HP:0000648)	1	1	Khadidja Guehlouz
00276130	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	1	1	Khadidja Guehlouz
00276131	-	Journal: Charif 2021	2 generations, 1 carrier, 1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00276132	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00276133	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00276135	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00276136	-	Journal: Charif 2021	2 generation, 2 carriers, 2 affected (son affected)	F	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	1	1	Khadidja Guehlouz
00276351	-	Journal: Charif 2021	-	F	?	Italy	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	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	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	-	1	1	Khadidja Guehlouz
00276355	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00276356	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00281820	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00281821	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00281823	-	Journal: Charif 2021	2 generations, 3 carriers, 2 affected (paternal)	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	3	Khadidja Guehlouz
00286161	-	Journal: Charif 2021	-	F	?	Germany	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00286162	-	Journal: Charif 2021	-	F	?	Germany	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00286175	-	Journal: Charif 2021	-	F	?	Germany	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00286177	-	Journal: Charif 2021	3 generations, 3 carriers, 3 affected	M	?	Spain	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00286182	-	Journal: Charif 2021	2 generations, 2 carriers, 2 affected	M	?	Italy	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00286183	-	Journal: Charif 2021	2 generations, 2 carriers, 1 affected	M	?	Italy	-	-	-	-	-	neuropathy, optic	Ptosis (HP:0000508)	1	1	Khadidja Guehlouz
00286184	-	Journal: Charif 2021	-	F	?	Italy	-	-	-	-	-	neuropathy, optic	Glaucoma (HP:0000501)	1	1	Khadidja Guehlouz
00286185	-	Journal: Charif 2021	-	M	-	Germany	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00286188	-	Journal: Charif 2021	-	M	?	Germany	-	-	-	-	-	neuropathy, optic	Abnormal macular morphology (HP:0001103)	1	1	Khadidja Guehlouz
00286190	-	Journal: Charif 2021	-	F	-	Germany	-	-	-	-	-	neuropathy, optic	-	2	1	Khadidja Guehlouz
00286191	-	Journal: Charif 2021	-	M	?	England	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	2	1	Khadidja Guehlouz
00286196	-	Journal: Charif 2021	2 generations, 4 carriers, 1 affected	F	?	Italy	-	-	-	-	-	neuropathy, optic	Cystoid macular degeneration (HP:0008028)	2	1	Khadidja Guehlouz
00287171	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	Abnormal macular morphology (HP:0001103); Mycrocyst	1	1	Khadidja Guehlouz
00287172	-	Journal: Charif 2021	2 generations, 2 carriers, 2 affected	M	-	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00287363	-	Journal: Charif 2021	-	M	-	France	-	-	-	-	-	neuropathy, optic	-	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)	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	1	2	Khadidja Guehlouz
00287971	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00287972	-	Journal: Charif 2021	3 generations, 4 carriers, 2 affected	M	no	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	1	4	Khadidja Guehlouz
00287973	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00287974	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	Macular dystrophy (HP:0007754)	1	1	Khadidja Guehlouz
00287975	-	Journal: Charif 2021	2 generations,2 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00287976	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	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)	2	1	Khadidja Guehlouz
00287980	-	Journal: Charif 2021	1 generation, 3 carriers, 1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	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	-	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)	2	1	Khadidja Guehlouz
00288886	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00288887	-	Journal: Charif 2021	Both non affected parents are HTZ for each variant	F	?	France	-	00y-02y	-	-	-	neuropathy, optic	-	2	1	Khadidja Guehlouz
00288888	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	2	1	Khadidja Guehlouz
00288889	-	Journal: Charif 2021	2 generations, 5 carriers, 4 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	2	5	Khadidja Guehlouz
00288890	-	Journal: Charif 2021	2 generations, 2 carriers, 1 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	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)	2	1	Khadidja Guehlouz
00288892	-	Journal: Charif 2021	2 generations, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	1	1	Khadidja Guehlouz
00288893	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00288894	-	Journal: Charif 2021	1 generation, 2 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	Optic atrophy (HP:0000648)	1	1	Khadidja Guehlouz
00288895	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	Amblyopia (HP:0000646); Peripheral neuropathy (HP:0009830); Hypertension (HP:0000822)	2	1	Khadidja Guehlouz
00288896	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	Peripheral neuropathy (HP:0009830); Ataxia (HP:0001251); Spastic paraparesis (HP:0002313)	1	1	Khadidja Guehlouz
00288897	-	Journal: Charif 2021	-	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00288898	-	Journal: Charif 2021	father with optic disc pallor but NO DNA	M	?	France	-	-	-	-	-	neuropathy, optic	Amblyopia (HP:0000646)	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)	2	1	Khadidja Guehlouz
00289017	-	Journal: Charif 2021	3 generations, 3 carriers, 2 affected	M	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00289018	-	Journal: Charif 2021	3 generations, 3 carriers, 2 affected ( son and grandson)	F	?	France	-	-	-	-	-	neuropathy, optic	-	1	1	Khadidja Guehlouz
00289019	-	Journal: Charif 2021	-	F	?	France	-	-	-	-	-	neuropathy, optic	Hypertension (HP:0000822); Renal insufficiency (HP:0000083)	1	1	Khadidja Guehlouz

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Global Variome shared LOVD

ACO2 (aconitase 2, mitochondrial)