All individuals with variants in gene EFHC1

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.

61 entries on 1 page. Showing entries 1 - 61.

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
00095424	-	-	-	F	no	India	South Indian	-	-	-	-	EJM	-	1	1	Anuranjan Anand
00095425	-	-	-	M	no	India	South Indian	-	-	-	-	EJM	-	1	1	Anuranjan Anand
00177014	72555	PubMed: Abela 2016	3-generation family, affected twin brothers, unaffected heterozygous carrier mother	M	no	Italy	-	-	-	-	-	EE	HP:0001252 HP:0002509 HP:0001266 HP:0000219 HP:0002705 HP:000319 HP:0000286 HP:0000494 HP:0000508 HP:0011359 HP:0100798	1	2	Anaïs Begemann
00177029	15258581-Fam1	PubMed: Suzuki 2004	3-generation family, 3 affected (F, 2M), 4 asymtomatic heterozygous carriers (F, 4M)	F;M	-	Mexico	-	-	-	-	-	EJM	see paper	2	7	Johan den Dunnen
00177030	15258581-Fam2	PubMed: Suzuki 2004	3-generation family, 2 affected (2F), 2 asymtomatic heterozygous carriers (F, M)	F;M	-	Mexico	-	-	-	-	-	EJM	see paper	2	4	Johan den Dunnen
00177031	15258581-Fam3	PubMed: Suzuki 2004	2-generation family, 3 affected (2F, M), 1 asymtomatic heterozygous carriers (M)	F;M	-	Mexico	-	-	-	-	-	EJM	see paper	1	4	Johan den Dunnen
00177032	15258581-Fam4	PubMed: Suzuki 2004	3-generation family, 4 affected (3F, M), 5 asymtomatic heterozygous carriers (F, 4M)	F;M	-	Mexico	-	-	-	-	-	EJM	see paper	1	9	Johan den Dunnen
00177033	15258581-Fam5	PubMed: Suzuki 2004	2-generation family, 2 affected (2M), 2 asymtomatic heterozygous carriers (F, M)	F;M	-	Mexico	-	-	-	-	-	EJM	see paper	1	4	Johan den Dunnen
00177034	15258581-Fam6	PubMed: Suzuki 2004	2-generation family, 2 affected (F, M)	F;M	-	Mexico	-	-	-	-	-	EJM	see paper	1	2	Johan den Dunnen
00177035	15258581-Fam7	PubMed: Suzuki 2004	4-generation family, 8 affected (4F, 4M), 11 asymtomatic heterozygous carriers	F;M	-	Belize	-	-	-	-	-	EJM	see paper	1	19	Johan den Dunnen
00177036	28370826-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure, absence seizure; photoparoxysmal response	1	1	Sourav Nayak
00177037	28370827-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response	1	1	Sourav Nayak
00177038	28370828-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure	1	1	Sourav Nayak
00177039	28370829-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure	1	1	Sourav Nayak
00177040	28370830-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure, absence seizure; no photoparoxysmal response	1	1	Sourav Nayak
00177041	28370831-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response	1	1	Sourav Nayak
00177042	28370832-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG normal;	1	1	Sourav Nayak
00177043	28370833-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response	1	1	Sourav Nayak
00177044	28370834-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response	1	1	Sourav Nayak
00177045	28370835-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response	1	1	Sourav Nayak
00177046	28370836-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response	1	1	Sourav Nayak
00177047	28370837-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure	1	1	Sourav Nayak
00177048	28370838-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response	1	1	Sourav Nayak
00177049	28370839-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response	1	1	Sourav Nayak
00177050	28370840-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response	1	1	Sourav Nayak
00177051	28370841-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure,generalized tonic–clonic seizure, absence seizure,febrile seizure; no photoparoxysmal response	1	1	Sourav Nayak
00177052	28370842-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves;	1	1	Sourav Nayak
00177053	28370843-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response	1	1	Sourav Nayak
00177054	28370844-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response	1	1	Sourav Nayak
00177055	28370845-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response	1	1	Sourav Nayak
00177056	28370846-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response	1	1	Sourav Nayak
00177057	28370847-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response	1	1	Sourav Nayak
00177058	28370848-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response	1	1	Sourav Nayak
00177059	28370849-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response	1	1	Sourav Nayak
00177060	28370850-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure	1	1	Sourav Nayak
00177061	28370851-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	M	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response	1	1	Sourav Nayak
00177062	28370852-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response	1	1	Sourav Nayak
00177063	28370853-Pat?	PubMed: Raju 2017, Journal: Raju 2017	-	F	-	India	-	-	-	-	-	EJM	myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response	1	1	Sourav Nayak
00177067	28370826-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	158	Johan den Dunnen
00177068	28370827-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	70	Johan den Dunnen
00177069	28370828-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	75	Johan den Dunnen
00177070	28370829-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	9	Johan den Dunnen
00177071	28370830-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	199	Johan den Dunnen
00177072	28370831-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	4	Johan den Dunnen
00177073	28370832-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	5	Johan den Dunnen
00177074	28370833-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00177075	28370834-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	193	Johan den Dunnen
00177076	28370835-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	9	Johan den Dunnen
00177077	28370836-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	11	Johan den Dunnen
00177078	28370837-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00177079	28370838-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	434	Johan den Dunnen
00177080	28370839-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	4	Johan den Dunnen
00177081	28370840-Pat?	PubMed: Raju 2017, Journal: Raju 2017	480 cases	F;M	-	India	-	-	-	-	-	-	-	1	94	Johan den Dunnen
00294155	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	52	Mohammed Faruq
00294156	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00374722	S-3051	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374723	S-5230	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00380696	183068	-	-	M	no	-	-	-	-	-	-	EJA1	Seizure, Bilateral tonic-clonic seizure, EEG abnormality, Bilateral tonic-clonic seizure on awakening	1	1	Andreas Laner
00436357	SMC1A-Pat5	PubMed: Yuan 2019	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	?, CDLS	-	1	1	Johan den Dunnen
00438302	Pat20	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0000364 hearing abnormality; HP:0001626 abnormality of the cardiovascular system	1	1	Johan den Dunnen
00438363	Pat81	PubMed: Chuan 2022	-	F	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0001945 fever; HP:0002013 vomiting; HP:0002014 diarrhea; HP:0030895 abnormal gastrointestinal motility	1	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

EFHC1 (EF-hand domain (C-terminal) containing 1)