Disease #00714 (RSTS1 (Rubinstein-Taybi syndrome, type 1), OMIM:180849)

Official abbreviation	RSTS1
Name	Rubinstein-Taybi syndrome, type 1
OMIM ID	180849
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	209
Phenotype entries for this disease	30
Associated with 1 gene	CREBBP
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-11-20 11:36:38 +01:00 (CET)

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.

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.

209 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00058635	-	PubMed: Roelfsema 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Johan den Dunnen
00058636	-	{PMID15706485:Roelfsema 2005}	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Johan den Dunnen
00058637	-	{PMID15706485:Roelfsema 2005}	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Johan den Dunnen
00058638	-	{PMID17220215:Bartholdi 2007}	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Johan den Dunnen
00058639	-	{PMID17299436:Zimmermann 2007}	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Johan den Dunnen
00058695	-	-	-	M	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058696	-	-	-	M	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058697	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058698	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058699	-	{PMID19353645:Foley 2009}	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058700	-	{PMID20014264:Bartsch 2010}	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058701	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058702	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058703	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058704	-	D.J.M. Peters, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058751	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058752	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058753	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058754	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00058767	-	{PMID20717166:Tsai 2011}	-	-	-	-	-	-	-	-	-	RSTS1	-	EP300	EP300	1	1	Martine van Belzen
00080828	-	PubMed: Trujillano 2017	no information from parents	-	-	-	-	-	-	-	-	RSTS1	Rubinstein-Taybi syndrome (OMIM:180849)	CREBBP	CREBBP	1	1	Daniel Trujillano
00110731	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110732	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110733	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110734	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110735	-	PubMed: Bentivegna 2006	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110736	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110737	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110738	-	-	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110739	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110740	-	PubMed: Bartsch 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110741	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110742	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110743	-	PubMed: Roelfsema 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110744	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110745	-	PubMed: Roelfsema 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110746	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110747	-	PubMed: Petrij 1995; OMIM:var0001	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110748	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110749	-	PubMed: Bartsch 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110750	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110751	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110752	-	PubMed: Roelfsema 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110753	-	D.J.M. Peters, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110754	-	PubMed: Petrij 1995; OMIM:var0002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110755	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110756	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110757	-	PubMed: Bartsch 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110758	-	PubMed: Udaka 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110759	-	PubMed: Bentivegna 2006	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110760	-	D.J.M. Peters, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110761	-	PubMed: Bartsch 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110762	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110763	-	PubMed: Roelfsema 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110764	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110765	-	PubMed: Bartsch 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110766	-	PubMed: Udaka 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110767	-	PubMed: Bentivegna 2006	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110768	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110769	-	M.J. van Belzen	de novo variant	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110770	-	PubMed: Roelfsema 2005	de novo variant	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110771	-	D.J.M. Peters, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110772	-	PubMed: Roelfsema 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110773	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110774	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110775	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110776	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110777	-	PubMed: Bartsch 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110778	-	PubMed: Udaka 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110779	-	PubMed: Roelfsema 2005	de novo variant	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110780	-	-	-	F	no	-	white	-	-	-	-	RSTS1	mild (IQ:50-80) mental retardation	CREBBP	CREBBP	1	1	Gwenael Le Guyader
00110781	-	PubMed: Bartsch 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110782	-	PubMed: Bentivegna 2006	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110783	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110784	-	D.J.M. Peters, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110785	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110786	-	Gervasini, personal comunication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110787	-	D.J.M. Peters, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110788	-	D.J.M. Peters, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110789	-	PubMed: Udaka 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110790	-	D.J.M. Peters, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110791	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110792	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110793	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110794	-	M.J. van Belzen	-	M	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110795	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110796	-	PubMed: Bartsch 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110797	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110798	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110799	-	PubMed: Bentivegna 2006	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110800	-	PubMed: Coupry 2002	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110801	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110802	-	PubMed: Roelfsema 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110803	-	PubMed: Roelfsema 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110804	-	PubMed: Bentivegna 2006	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110805	-	PubMed: Bartsch 2002	milder phenotype	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110806	-	PubMed: Udaka 2005	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Johan den Dunnen
00110807	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110808	-	M.J. van Belzen	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen
00110809	-	Gervasini, personal communication	-	-	-	-	-	-	-	-	-	RSTS1	-	CREBBP	CREBBP	1	1	Martine van Belzen

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

Global Variome shared LOVD