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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00002647 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002648 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002649 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002650 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002651 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002652 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002653 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002654 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002655 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002656 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002657 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002658 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002659 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002660 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002661 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00002662 |
- |
PubMed: Soldovieri 2014, Journal: Soldovieri 2014 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Gaetan Lesca |
00016321 |
- |
- |
- |
F |
- |
Italy |
- |
- |
- |
- |
- |
BFNS1 |
Neonatal generalized tonic-clonic seizures not responsive to any therapy. Seizures ceased spontaneously at the 25th day of life. |
1 |
1 |
Lab Zuffardi |
00016322 |
- |
- |
- |
M |
no |
Italy |
- |
- |
- |
- |
- |
EE |
diagnosis: epileptic encephalopathy and pervasive developmental disorder |
1 |
1 |
Lab Zuffardi |
00035985 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00035986 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00035987 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00035988 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00035989 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
suspected benign familiar neonatal infantile epilepsy; other patient: suspected familiar benign newborn seizures |
1 |
1 |
Andreas Laner |
00035990 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
benign familal neonatal seizures |
1 |
1 |
Andreas Laner |
00035991 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00035992 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00035993 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
familial benign neonatal seizures |
1 |
1 |
Andreas Laner |
00035994 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
benign familal neonatal seizures |
1 |
1 |
Andreas Laner |
00035995 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00035996 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
suspected benign familal neonatal seizures |
1 |
1 |
Andreas Laner |
00035997 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
atypical RETT-syndrome, therapy-resistent epilepsy since the first months of life, no development |
1 |
1 |
Andreas Laner |
00035998 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00035999 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036000 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036001 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
benign newborn seizures |
1 |
1 |
Andreas Laner |
00036002 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036003 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
neonatal seizures |
1 |
1 |
Andreas Laner |
00036004 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036005 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036006 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
status post seizures as a newborn and in infancy, son has also seizures as a newborn |
1 |
1 |
Andreas Laner |
00036007 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036008 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
suspected benign familal neonatal seizures |
1 |
1 |
Andreas Laner |
00036009 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036010 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
? |
developmental delay, cerebral seizures, sucking weakness |
1 |
1 |
Andreas Laner |
00036011 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036012 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00036013 |
- |
- |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Andreas Laner |
00050377 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
F |
- |
United Kingdom (Great Britain) |
- |
- |
- |
Decipher |
- |
? |
infantile encephalopathy, generalized myoclonic seizures, seizures |
1 |
1 |
Johan den Dunnen |
00050397 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
F |
- |
United Kingdom (Great Britain) |
- |
- |
- |
Decipher |
- |
? |
breathing dysregulation, intellectual disability, seizures, hypertelorism, low-set posteriorly rotated ears |
1 |
1 |
Johan den Dunnen |
00050551 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
M |
- |
United Kingdom (Great Britain) |
- |
- |
- |
Decipher |
- |
? |
aplasia/hypoplasia of the corpus callosum, infantile encephalopathy, seizures |
1 |
1 |
Johan den Dunnen |
00050561 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, 1 affected |
M |
- |
United Kingdom (Great Britain) |
- |
- |
- |
Decipher |
- |
? |
global developmental delay, lower limb muscle weakness, upper limb spasticity, strabismus, congenital muscular torticollis, seizures, generalized seizures, dolichocephaly, narrow forehead, epicanthus, high-arched palate, abnormality of the hair |
1 |
1 |
Johan den Dunnen |
00050651 |
- |
PubMed: DDDS 2015, Journal: DDDS 2015 |
family, affected and affected2nd degree relatives |
F |
- |
United Kingdom (Great Britain) |
- |
- |
- |
Decipher |
- |
? |
global developmental delay, generalized seizures, recurrent hand flapping, deeply set eye, delayed speech and language development, aggressive behavior, pain insensitivity |
1 |
1 |
Johan den Dunnen |
00054788 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
10 |
NeuroMeGen |
00054795 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
4 |
NeuroMeGen |
00054821 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054822 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054823 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054824 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054825 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054826 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054827 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054828 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054829 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
- |
1 |
1 |
NeuroMeGen |
00054830 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
NeuroMeGen |
00054831 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
NeuroMeGen |
00054832 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
NeuroMeGen |
00080837 |
- |
PubMed: Trujillano 2017 |
unaffected non-carrier parents |
- |
- |
- |
- |
- |
- |
- |
- |
EIEE7 |
Epileptic encephalopathy, early infantile, 7 (OMIM:613720) |
1 |
1 |
Daniel Trujillano |
00081048 |
- |
PubMed: Trujillano 2017 |
unaffected non-carrier parents |
- |
- |
- |
- |
- |
- |
- |
- |
BFNS1 |
Seizures, benign neonatal, 1 (OMIM:121200) |
1 |
1 |
Daniel Trujillano |
00111406 |
S_106 |
PubMed: Popp 2017, Journal: Popp 2017 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
EIEE7 |
Developmental delay, hypotonia, seizures during first year of life |
1 |
1 |
Bernt Popp |
00116805 |
S_101:0/1:CONTROL |
PubMed: Bobbili 2018, Journal: Bobbili 2018 |
individual from 567 controls |
- |
- |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Dheeraj Bobbili |
00117004 |
S_544:0/1:CONTROL |
PubMed: Bobbili 2018, Journal: Bobbili 2018 |
individual from 567 controls |
- |
- |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Dheeraj Bobbili |
00117056 |
S_63:0/1:CONTROL |
PubMed: Bobbili 2018, Journal: Bobbili 2018 |
individual from 567 controls |
- |
- |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Dheeraj Bobbili |
00176996 |
73214 |
- |
- |
F |
no |
Italy |
- |
- |
- |
- |
- |
EIEE |
- |
1 |
1 |
Anaïs Begemann |
00177006 |
71693 |
- |
- |
M |
no |
Switzerland |
- |
- |
- |
- |
- |
EE |
HP:0008936
HP:0002078
HP:0002066
HP:0002522
HP:0001761
HP:0000154
HP:0004533 |
1 |
1 |
Anaïs Begemann |
00180190 |
29286531-Pat42 |
PubMed: Tumienė 2018 |
- |
- |
- |
(Slovenia) |
- |
- |
- |
- |
- |
? |
(Neonatal) seizures (HP:0001250), global developmental delay (HP:0001263), intellectual disability (HP:0001249), sagittal craniosynostosis (HP:0004442), bitemporal narrowing (HP:0000341), short hands (HP:0004279), tapering fingers (HP:0001182), cryptorchidism (HP:0000028). |
1 |
1 |
Johan den Dunnen |
00210002 |
- |
- |
- |
F |
- |
Germany |
- |
- |
- |
- |
- |
- |
HP:0007359 (Focal seizures); HP:0002197 (Generalized seizures); HP:0012638 (Abnormality of nervous system physiology) |
1 |
1 |
Andreas Laner |
00269907 |
- |
- |
- |
? |
- |
- |
- |
- |
- |
- |
- |
? |
Global developmental delay (HP:0001263); Muscular hypotonia of the trunk (HP:0008936); Poor head control (HP:0002421); Spasticity (HP:0001257); Inability to walk (HP:0002540); Abnormal visual fixation (HP:0025404); Open mouth (HP:0000194); High palate (HP:0000218); Congenital contracture (HP:0002803) |
1 |
1 |
IMGAG |
00292962 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
3 |
Mohammed Faruq |
00292963 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Mohammed Faruq |
00292964 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
2 |
Mohammed Faruq |
00292965 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
3 |
Mohammed Faruq |
00295578 |
- |
- |
- |
F |
- |
- |
- |
- |
- |
- |
- |
? |
Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638) |
1 |
1 |
Andreas Laner |
00296850 |
- |
- |
- |
M |
- |
- |
- |
- |
- |
- |
- |
? |
Epileptic spasms (HP:0011097); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Neurodevelopmental abnormality (HP:0012759); Abnormal muscle tone (HP:0003808) |
1 |
1 |
Andreas Laner |
00299688 |
- |
- |
- |
F |
- |
- |
- |
- |
- |
- |
- |
? |
Epileptic encephalopathy (HP:0200134); Abnormality of the nervous system (HP:0000707) |
1 |
1 |
Andreas Laner |
00301387 |
- |
- |
- |
M |
- |
Germany |
- |
- |
- |
- |
- |
? |
Seizures (HP:0001250); Abnormality of the nervous system (HP:0000707) |
1 |
1 |
Andreas Laner |
00303006 |
Pat51 |
PubMed: Helbig 2016 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
seizures |
Epileptic encephalopathy, neonatal onset; age onset neonatal |
1 |
1 |
Johan den Dunnen |
00303007 |
Pat52 |
PubMed: Helbig 2016 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
seizures |
Epileptic encephalopathy, neonatal onset; age onset neonatal |
1 |
1 |
Johan den Dunnen |
00303008 |
Pat53 |
PubMed: Helbig 2016 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
seizures |
Epileptic encephalopathy, neonatal onset; age onset neonatal |
1 |
1 |
Johan den Dunnen |
00303009 |
Pat54 |
PubMed: Helbig 2016 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
seizures |
Benign Familial Neonatal Seizures; age onset neonatal |
1 |
1 |
Johan den Dunnen |
00303143 |
T24158 |
PubMed: Carvill 2013 |
2-generation family, 1 affected, unaffected non-carrier parents |
M |
- |
- |
- |
- |
- |
- |
- |
EE |
early onset epileptic encephalopathy |
1 |
1 |
Johan den Dunnen |
00303144 |
T23919 |
PubMed: Carvill 2013 |
2-generation family, 1 affected, unaffected non-carrier parents |
F |
- |
- |
- |
- |
- |
- |
- |
EE |
early onset epileptic encephalopathy/infantile spasms |
1 |
1 |
Johan den Dunnen |
00303149 |
T24019 |
PubMed: Carvill 2013 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EE |
epileptic encephalopathy |
1 |
1 |
Johan den Dunnen |
00303150 |
T23039 |
PubMed: Carvill 2013 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
EE |
epileptic encephalopathy |
1 |
1 |
Johan den Dunnen |
00306224 |
130 |
- |
- |
M |
- |
China |
- |
- |
- |
- |
- |
BFNS1 |
- |
1 |
1 |
Sha Hong |
00308768 |
- |
PubMed: Le 2019 |
analysis 305 unrelated individuals |
- |
- |
Viet Nam |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00314863 |
Trio10 |
PubMed: Zhu 2015 |
- |
M |
- |
Israel |
- |
- |
- |
- |
- |
? |
Epileptic encephalopathy with severe intellectual disability and macrocephaly. |
1 |
1 |
Johan den Dunnen |
00317981 |
171279 |
- |
- |
M |
? |
Syria |
- |
- |
- |
- |
- |
BFNS1 |
Seizure, Neonatal seizure |
1 |
1 |
Andreas Laner |
00325391 |
Pat4 |
PubMed: Hong 2020 |
- |
M |
- |
Taiwan |
- |
- |
- |
- |
- |
? |
3d-onset seizures; general tonic seizures, apnea; no speech; 3y-hypotonia |
1 |
1 |
Johan den Dunnen |
00325392 |
Pat5 |
PubMed: Hong 2020 |
- |
F |
- |
Taiwan |
- |
6m |
- |
- |
- |
? |
3d-onset seizures; general tonic seizures; no speech; 1y-hypotonia |
1 |
1 |
Johan den Dunnen |
00330834 |
175044 |
- |
- |
M |
? |
Germany |
- |
- |
- |
- |
- |
BFNS1 |
Generalized-onset seizure, Complex, pronounced epilepsy, generalised, therapy with VPA and LMT in high doses, now seizure-free for 3 months |
1 |
1 |
Andreas Laner |