All individuals with variants in gene PCDH19

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.

246 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

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
00032564	19377168-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	mental retardation, X-linked (MRX)	1	1	Lucy Raymond
00032565	19377169-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	mental retardation, X-linked (MRX)	1	41	Lucy Raymond
00032566	19377170-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	mental retardation, X-linked (MRX)	1	1	Lucy Raymond
00032567	19377171-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	mental retardation, X-linked (MRX)	1	1	Lucy Raymond
00032568	19377172-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	mental retardation, X-linked (MRX)	1	1	Lucy Raymond
00032569	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032570	-	PubMed: Depienne 2009	Fam6: 3-generation family, 3 affected females	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	3	Christel Depienne
00032571	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Christel Depienne
00032572	-	-	Fam6: 6-generation family, 23 affected females	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	23	Johan den Dunnen
00032573	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Johan den Dunnen
00032574	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032575	-	-	-	F	-	-	-	-	-	-	-	?	focal, tonic or GTC	1	1	Johan den Dunnen
00032576	-	-	inheritance unknown	F	-	-	-	-	-	-	-	EIEE	epilepsy, focal; MR	1	1	Johan den Dunnen
00032577	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032578	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032579	-	PubMed: Scheffer 2008	Fam4: 4-generation family, 7 affected females	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	7	Johan den Dunnen
00032580	-	-	-	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032581	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Johan den Dunnen
00032582	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy, focal; MR	1	1	Johan den Dunnen
00032583	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy, focal; MR	1	1	Johan den Dunnen
00032584	-	-	Fam5: 5-generation family, 12 affected females	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR); patIV.2 multiple seizures first year of lif, severe learning disabilities, no speech, behavioral disturbances	1	12	Johan den Dunnen
00032585	-	-	maternal inheritance (EFMR)	F	-	-	-	-	-	-	-	?	Generalized Epilepsy with Febrile Seizures Plus (GEFS+)	1	1	Christel Depienne
00032586	-	-	inheritance unknown	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032587	-	PubMed: Depienne 2009	Fam7: 2-generation family, affected daugther, parents not carrier	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032588	-	-	inheritance unknown (not in the mother), familial, unusual X-linked transmission with male sparing	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Christel Depienne
00032589	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy, focal	1	1	Christel Depienne
00032590	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Johan den Dunnen
00032591	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Johan den Dunnen
00032592	-	-	-	F	-	-	-	-	-	-	-	?	seizures, tonic. focal	1	1	Johan den Dunnen
00032593	-	-	inheritance unknown (not in the mother)	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032594	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy, focal; MR	1	1	Johan den Dunnen
00032595	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy, focal; MR	1	1	Johan den Dunnen
00032596	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	2	1	Johan den Dunnen
00032597	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Johan den Dunnen
00032598	-	-	monozygotic twins	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome; epilepsy, generalized; seizures, focal and secondary generalization; EFMR	2	2	Johan den Dunnen
00032599	-	-	-	F	-	-	-	-	-	-	-	?	seizures, focal and secondary generalization	1	1	Johan den Dunnen
00032600	-	-	maternal inheritance	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Johan den Dunnen
00032601	-	-	mosaic mother	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Johan den Dunnen
00032602	-	PubMed: Depienne 2009	Fam10: 2-generation family, affected daugther, parents not carrier	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032603	-	PubMed: Depienne 2009	Fam11: 2-generation family, affected daugther, parents not carrier	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032604	-	-	inheritance unknown	F	-	-	-	-	-	-	-	EIEE	epilepsy, generalized; MR	1	1	Johan den Dunnen
00032605	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032606	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032607	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032608	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032609	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032610	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Johan den Dunnen
00032611	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Johan den Dunnen
00032612	-	-	paternal inheritance	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Johan den Dunnen
00032613	-	-	-	F	-	-	-	-	-	-	-	?	GTC; seizures, focal	1	1	Johan den Dunnen
00032614	-	PubMed: Scheffer 2008	Fam1: 4-generation family, 10 affected females	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	10	Johan den Dunnen
00032615	-	-	-	F	-	-	-	-	-	-	-	?	seizures, focal and secondary generalization	1	1	Johan den Dunnen
00032616	-	PubMed: Depienne 2009	Fam12: 2-generation family, affected daugther, paternal inheritance	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032617	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Johan den Dunnen
00032618	-	-	sib pairs (females), paternal inheritance	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032619	-	-	inheritance unknown	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032620	-	-	maternal inheritance (mother asymptomatic)	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032621	-	-	maternal inheritance (mother asymptomatic)	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032622	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032623	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Johan den Dunnen
00032624	-	-	inheritance unknown	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032625	-	PubMed: Depienne 2009	Fam8: 2-generation family, 2 affected sisters, paternal inheritance	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome, adolescence-onset idiopathic epilepsy	1	2	Christel Depienne
00032626	-	-	paternal inheritance	F	-	-	-	-	-	-	-	EIEE	epilepsy, focal, no mental retardation	1	1	Christel Depienne
00032627	-	-	paternal inheritance	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032628	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032629	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Johan den Dunnen
00032630	-	PubMed: Depienne 2009	Fam9: 2-generation family, affected daugther, mother not carrier, father untested	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032631	-	-	maternal inheritance (mother asymptomatic)	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032632	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032633	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032634	-	-	-	F	-	-	-	-	-	-	-	?	GTC, tonic seizures, focal with SG, atypical absences	1	1	Johan den Dunnen
00032635	-	-	maternal inheritance (mother with FS)	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032636	-	-	mosaic mother	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Johan den Dunnen
00032637	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032638	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Johan den Dunnen
00032639	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy, focal; MR	2	1	Johan den Dunnen
00032640	-	-	paternal inheritance	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Johan den Dunnen
00032641	-	PubMed: Depienne 2009	Fam2: 2-generation family, 2 affected sisters, paternal inheritance	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	2	Christel Depienne
00032642	-	-	-	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032643	-	PubMed: Scheffer 2008	Fam3: 6-generation family, 6 affected females	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	6	Johan den Dunnen
00032644	-	PubMed: Scheffer 2008	Fam2: 5-generation family, 6 affected females	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	6	Johan den Dunnen
00032645	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Christel Depienne
00032646	-	-	maternal inheritance (EFMR)	F	-	-	-	-	-	-	-	?	Generalized Epilepsy with Febrile Seizures Plus (GEFS+)	1	1	Christel Depienne
00032647	-	-	inheritance unknown	F	-	-	-	-	-	-	-	?	Dravet syndrome?	1	1	Christel Depienne
00032648	-	PubMed: Depienne 2009	Fam3: 2-generation family, isolated female patient, 2 non-carrier twin sisters with cognitive delay or impairment	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032649	-	-	inheritance unknown	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032650	-	-	inheritance unknown (not in the mother), familial, unusual X-linked transmission with male sparing	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Christel Depienne
00032651	-	-	-	F	-	-	-	-	-	-	-	EIEE	epilepsy and mental retardation, female restricted (EFMR)	1	1	Johan den Dunnen
00032652	-	-	-	F	-	-	-	-	-	-	-	?	see paper: ..	1	1	Johan den Dunnen
00032653	-	PubMed: Depienne 2009	Fam4: 3-generation family, 4 affected females	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome; 3/4 females adolescence-onset idiopathic epilepsy	1	4	Christel Depienne
00032654	-	PubMed: Depienne 2009	Fam5: 2-generation family, affected daugther, parents not carrier	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032655	-	PubMed: Depienne 2009	Fam5: 2-generation family, affected daugther, parents not carrier	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032656	-	-	familial condition	F	-	-	-	-	-	-	-	?	see paper: ..	2	1	Johan den Dunnen
00032657	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome; epilepsy, focal	1	1	Christel Depienne
00032658	-	-	-	F	-	-	-	-	-	-	-	?	seizures; intellectual disability	1	1	Johan den Dunnen
00032659	-	PubMed: Depienne 2009	Fam1: 2-generation family, affected male, parents non-carrier	M	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032660	-	-	-	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome	1	1	Christel Depienne
00032661	-	-	inheritance unknown	F	-	-	-	-	-	-	-	EIEE	Dravet syndrome; epilepsy, focal	1	1	Christel Depienne

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Global Variome shared LOVD

PCDH19 (protocadherin 19)