All individuals with variants in gene RELN

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.

84 entries on 1 page. Showing entries 1 - 84.

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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00016324	-	-	Diagnosis: Febrile seizures	F	?	Italy	-	-	-	-	-	?	familial febrile seizures	1	1	Lab Zuffardi
00016325	-	-	Diagnosis: Benign epilepsy of childhood with centrotempral spikes (BECTS)	M	no	Italy	-	-	-	-	-	?	benign childhood epilepsy with centro-temporal spikes (BCECTS)	1	1	Lab Zuffardi
00080846	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	LIS2	Lissencephaly 2 (Norman-Roberts type) (OMIM:257320)	1	1	Daniel Trujillano
00104027	Vogelaar-727A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104035	Vogelaar-756A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00116810	S_117:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116812	S_120:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116813	S_121:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116814	S_124:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116815	S_126:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Dheeraj Bobbili
00116816	S_127:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116828	S_150:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116832	S_154:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116844	S_177:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116866	S_227:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116872	S_24:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116897	S_298:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116902	S_309:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116904	S_311:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116909	S_32:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116914	S_334:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116915	S_335:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116918	S_343:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116929	S_371:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116933	S_377:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116936	S_386:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116951	S_427:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116953	S_435:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Dheeraj Bobbili
00116964	S_462:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116969	S_472:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Dheeraj Bobbili
00116972	S_481:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Dheeraj Bobbili
00116980	S_496:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116982	S_498:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116989	S_508:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116992	S_515:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00116993	S_517:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117009	S_558:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117013	S_562:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117014	S_563:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117021	S_571:0/1:TYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	typical Rolandic epilepsy	1	1	Dheeraj Bobbili
00117024	S_575:0/1:TYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	typical Rolandic epilepsy	2	1	Dheeraj Bobbili
00117038	S_6:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117041	S_605:0/1:TYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	typical Rolandic epilepsy	1	1	Dheeraj Bobbili
00117059	S_632:0/1:TYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	typical Rolandic epilepsy	3	1	Dheeraj Bobbili
00117062	S_639:0/1:TYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	typical Rolandic epilepsy	1	1	Dheeraj Bobbili
00117072	S_67:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117075	S_673:0/1:TYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	typical Rolandic epilepsy	1	1	Dheeraj Bobbili
00117107	S_744:0/1:TYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	typical Rolandic epilepsy	2	1	Dheeraj Bobbili
00207758	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0001250 (Seizures)	1	1	Andreas Laner
00225433	-Fam1Pat1/2	Journal: Chang 2019	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	no	Korea, South (Republic)	-	-	-	-	-	SEMDSP	see paper; …	2	2	Johan den Dunnen
00250194	FAS21	PubMed: Garshasbi 2020	5-generation family,7 affected (4M, 3F), unaffected carriers, autosomal dominant inheritance	M	yes	Iran	Kurdish	?	-	no	none	SPDA	Enthesitis (HP:0100686) low back pain (HP:0003419) arthritis (HP:0001369) sacroiliac arthritis (HP:0012317) Sacroiliac joint synovitis (HP:0012449) Scoliosis (HP:0002650) Synovitis (HP0100769)	1	7	Ehsan Razmara
00294227	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	27	Mohammed Faruq
00294228	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00294229	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294230	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294231	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294232	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00294233	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294234	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	51	Mohammed Faruq
00294235	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00294236	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	18	Mohammed Faruq
00294237	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00294238	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00294239	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00294240	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00294241	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	116	Mohammed Faruq
00294242	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	43	Mohammed Faruq
00294243	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295535	-	-	-	M	-	-	-	-	-	-	-	?	Myoclonus (HP:0001336)	1	1	Andreas Laner
00295541	-	-	-	F	-	-	-	-	-	-	-	?	Complex febrile seizures (HP:0011172); Abnormality of muscle physiology (HP:0011804); Seizures (HP:0001250); Muscular hypotonia (HP:0001252); Motor delay (HP:0001270); Neurodevelopmental abnormality (HP:0012759); Focal seizures (HP:0007359); Delayed speech and language development (HP:0000750)	1	1	Andreas Laner
00295649	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of nervous system physiology (HP:0012638); Focal seizures (HP:0007359)	1	1	Andreas Laner
00300625	-	-	-	F	-	Germany	-	-	-	-	-	?	Abnormality of movement (HP:0100022); Dystonia (HP:0001332)	1	1	Andreas Laner
00305125	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00305126	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00307965	14DG0959	PubMed: Anazi 2017	familial	F	-	-	-	-	-	-	-	ID	see paper; ..., Profound global developmental delay, Lissencephaly; Cerebellar hypoplasia; Congenital glaucoma, Neonatal hypotonia, Hypertelorism, Bulbous nose, Spasticity	1	1	Johan den Dunnen
00326814	174460	-	-	F	?	Germany	-	-	-	-	-	ETL7	(+) Behavioral abnormality,(+) Eczema,(+) Atopic dermatitis,(+) Seizure,(+) Motor delay,(+) Focal-onset seizure,(+) Delayed fine motor development,(+) Diminished ability to concentrate,(+) Infection-related seizure,(+) Seizure precipitated by febrile infection	1	1	Andreas Laner
00331852	14DG0959	PubMed: Alsaif 2019	familial	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	primary congenital glaucoma, lissencephaly and severe cerebellar hypoplasia	1	1	LOVD
00361613	13DG0958	PubMed: Anazi 2017	familial	F	yes	Saudi Arabia	-	-	-	-	-	ID	not syndromic; global developmental delay, seizures, lissencephaly with cerebellar hypoplasia	1	1	Johan den Dunnen
00374727	S-1713	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374728	S-2073	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374825	S-132	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00434648	F6	PubMed: Carss 2014	affected fetus	F	-	United Kingdom (Great Britain)	-	-	-	-	-	?	abdominal situs inversus (HP:0003363); asplenia (HP:0001746); abnormality of the liver (HP:0001392); right atrial isomerism (HP:0011536); abnormality of the left ventricle (HP:0001711); abnormality of the coronary sinus (HP:0011642); ventricular septal defect (HP:0001629); atrioventricular canal defect (HP:0006695); double outlet right ventricle (HP:0001719); abnormality of the pulmonary veins (HP:0011718); right aortic arch (HP:0012020); persistent left superior vena cava (HP:0005301); abnormality of the heart (HP:0001627); small chin (HP:0000331); flat forehead (HP:0004425); flat nose (HP:0000457); micrognathia (HP:0000347); abnormality of the head (HP:0000234); hypoplasia of the thymus (HP:0000778); bilateral trilobed lungs (HP:0011861)	2	1	Johan den Dunnen

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