Disease #00065 (Rett syndrome, congenital variant, OMIM:613454)

Official abbreviation	-
Name	Rett syndrome, congenital variant
OMIM ID	613454
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	AD
Individuals reported having this disease	28
Phenotype entries for this disease	32
Associated with 1 gene	FOXG1
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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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:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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

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Operator	Column type	Example	Matches
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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'

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28 entries on 1 page. Showing entries 1 - 28.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00000242	-	PubMed: Le Guen 2011	-	M	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00000247	-	PubMed: Bahi-Buisson 2010	-	F	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00000253	-	PubMed: Mencarelli 2010	-	F	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00000255	-	PubMed: Van der Aa 2011	-	M	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00000256	-	PubMed: Mencarelli 2010	-	F	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00000257	-	PubMed: Mencarelli 2010	-	F	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00000258	-	PubMed: Mencarelli 2010	-	F	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00000260	-	PubMed: Le Guen 2011	-	F	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00000268	-	PubMed: Bahi-Buisson 2010	-	F	-	-	-	-	-	-	Rett syndrome, congenital variant	-	FOXG1	FOXG1	1	1	RettBASE
00059262	-	-	-	F	-	United States	-	-	-	-	Rett syndrome, congenital variant	-	-	-	0	1	Henk van Kranen
00064618	-	PubMed: Olson 2015	-	F	-	United States	-	-	-	-	Rett syndrome, congenital variant	-	CDKL5, FOXG1, MECP2, MEF2C, NTNG1, TCF4	MECP2	1	1	Henk van Kranen
00081041	-	Trujillano et al., submitted	unaffected non-carrier parents	-	-	-	-	-	-	-	Rett syndrome, congenital variant	Rett syndrome, congenital variant (OMIM:613454)	FOXG1	FOXG1	1	1	Daniel Trujillano
00114879	19377263-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114885	19377268-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114887	-	-	-	F	-	Greece	-	-	-	-	Rett syndrome, congenital variant	Rett syndrome	CDKL5	CDKL5	1	1	Marianna Kouskou
00114917	19377294-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114927	19377299-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome, variant, infantile spasms; Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114928	19377300-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114929	19377301-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114933	19377305-Pat?	PubMed: Tarpey 2009	-	F	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114946	19377317-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	-	CDKL5	-	0	1	Lucy Raymond
00114948	19377319-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	-	CDKL5	-	0	1	Lucy Raymond
00114949	19377320-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	-	CDKL5	-	0	1	Lucy Raymond
00114956	19377327-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome, variant, infantile spasms; Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114960	19377331-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome, variant, infantile spasms; Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114961	19377332-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome, atypical; Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114962	19377333-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond
00114973	19377344-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	Rett syndrome, congenital variant	Rett syndrome, variant, infantile spasms; Rett syndrome?	CDKL5	CDKL5	1	1	Lucy Raymond

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Global Variome shared LOVD