Disease #00067 (EIEE2 (encephalopathy, epileptic, early infantile, type 2 (EIEE2)), OMIM:300672)

Official abbreviation	EIEE2
Name	encephalopathy, epileptic, early infantile, type 2 (EIEE2)
OMIM ID	300672
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked dominant
Individuals reported having this disease	62
Phenotype entries for this disease	56
Associated with 1 gene	CDKL5
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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.

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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
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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
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>=	Numeric	>=23	all entries higher than, or equal to, 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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62 entries on 1 page. Showing entries 1 - 62.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00000239	-	PubMed: Van der Aa 2011	Not Rett synd. - early-onset encephalopathy	F	-	-	-	-	-	-	-	EIEE2	-	FOXG1	FOXG1	1	1	RettBASE
00081063	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	EIEE2	Epileptic encephalopathy, early infantile, 2 (OMIM:300672)	CDKL5	CDKL5	1	1	Daniel Trujillano
00081085	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	EIEE2	Epileptic encephalopathy, early infantile, 2 (OMIM:300672)	CDKL5	CDKL5	1	1	Daniel Trujillano
00114880	19377264-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114884	19377267-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	EIEE2	CDKL5	CDKL5	1	8	Lucy Raymond
00114886	19377269-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114888	19377270-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114893	19377273-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	2	1	Lucy Raymond
00114897	19377276-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114900	19377277-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114901	19377278-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114902	19377279-Pat?	PubMed: Tarpey 2009	unrelated girls	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114903	19377280-Pat?	PubMed: Tarpey 2009	unrelated girls	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114904	19377281-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	severe mental retardation, microcephaly, diffuse hypotonia, hyperreflexia, no language, numerous refractory seizures, stereotypical movement hands; 5y-precocious puberty; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114906	19377283-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114907	19377284-Pat?	PubMed: Tarpey 2009	family, affected twin girls and an affected brother	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114908	19377285-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114909	19377286-Pat?	PubMed: Tarpey 2009	monozygotic twins	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114910	19377287-Pat?	PubMed: Tarpey 2009	monozygotic twins	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	infantile spasms, severe psychomotor retardation, stereotypic hand movements, mood swings, episodes of hyperventilation.; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114911	19377288-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	Rett syndrome (variant), infantile seizures, acquired microcephaly, hand apraxia, generalized hypotonia, stereotypic hand motions; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114912	19377289-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	Rett syndrome, variant, infantile spasms; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114913	19377290-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	refractory epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114916	19377293-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	8m-psychomotor regression, coincided with onset seizures; loss of speech, ataxia, progression of refractory seizures; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114918	19377295-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	EIEE2	CDKL5	CDKL5	3	3	Lucy Raymond
00114925	19377297-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	2m-onset seizures; mild dysmorphic features incl. high sloping forehead, hypotelorism, epicanthus, broad nasal bridge, high palate, large anteverted ears; profound mental retardation, refractory epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114926	19377298-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114930	19377302-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	refractory epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114931	19377303-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114932	19377304-Pat?	PubMed: Tarpey 2009	family, affected twin girls and an affected brother	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114935	19377307-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	refractory epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114937	19377309-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114938	19377310-Pat?	PubMed: Tarpey 2009	family, affected twin girls and an affected brother	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114939	19377311-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114940	-	-	hypotonia, development delay	F	-	Brazil	-	-	-	-	-	EIEE2	Epiletic encephalopathy, Infantile Spasms; CDKL5 related encephalopathy	CDKL5	CDKL5	1	1	Erica Ermel
00114941	19377312-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114942	19377313-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114944	19377315-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114945	19377316-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114947	19377318-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	Rett syndrome, atypical; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114950	19377321-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	-	CDKL5	-	-	1	Lucy Raymond
00114951	19377322-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	-	CDKL5	-	-	1	Lucy Raymond
00114952	19377323-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	-	CDKL5	-	-	1	Lucy Raymond
00114953	19377324-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	-	CDKL5	-	-	1	Lucy Raymond
00114954	19377325-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	-	CDKL5	-	-	1	Lucy Raymond
00114955	19377326-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114957	19377328-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114958	19377329-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	refractory epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114959	19377330-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114963	19377334-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114964	19377335-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114965	19377336-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	epilepsy; EIEE2	CDKL5	CDKL5	1	1	Lucy Raymond
00114966	19377337-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114968	19377339-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00114972	19377343-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	EIEE2	early epilepsy; encephalopathy	CDKL5	CDKL5	1	1	Lucy Raymond
00309892	-	-	-	F	no	Slovakia (Slovak Republic)	-	-	-	-	-	EIEE2	-	CDKL5	CDKL5	1	1	Andrea Soltysova
00309893	-	-	-	F	no	Slovakia (Slovak Republic)	-	-	-	-	-	EIEE2	-	CDKL5	CDKL5	1	1	Andrea Soltysova
00309894	-	-	-	F	no	Slovakia (Slovak Republic)	-	-	-	-	-	EIEE2	-	CDKL5	CDKL5	1	1	Andrea Soltysova
00309895	-	-	-	M	no	Slovakia (Slovak Republic)	-	-	-	-	-	EIEE2	-	CDKL5	CDKL5	1	1	Andrea Soltysova
00309896	-	-	-	M	no	Slovakia (Slovak Republic)	-	-	-	-	-	EIEE2	-	CDKL5	CDKL5	1	1	Andrea Soltysova
00309897	-	-	-	M	no	Slovakia (Slovak Republic)	-	-	-	-	-	EIEE2	-	CDKL5	CDKL5	1	1	Andrea Soltysova
00313780	-	-	-	F	no	Italy	-	-	-	-	-	EIEE2	HP:0011344(Severe global developmental delay) HP:0010864 (Intellectual disability, severe) HP:0000252 (Microcephaly) HP:0000733 (Stereotypy) HP:0001251 (Ataxia) HP:0002883 (Hyperventilation) HP:0000490 (Deep set eyes) HP:0000426 (Prominent nasal bridge) HP:0000154 (Wide mouth) HP:0012471 (Thick vermilion border) HP:0000347 (Micrognathia) HP:0000687 (Widely spaced teeth)	ATRX, CDKL5, CNTNAP2, FOXG1, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, ZEB2	CDKL5	1	1	Giuseppe Marangi
00403013	192344	-	-	F	no	Germany	-	-	-	-	-	EIEE2	Seizure, Intellectual disability, Scoliosis, Neurodevelopmental abnormality	CDKL5	CDKL5	1	1	Andreas Laner

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Global Variome shared LOVD