Disease #05619 (RSTS (Rubinstein-Taybi syndrome (RSTS)))

Official abbreviation	RSTS
Name	Rubinstein-Taybi syndrome (RSTS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	80
Phenotype entries for this disease	78
Associated with 2 genes	CREBBP, EP300
Associated tissues	-
Disease features	-
Remarks	-
Date created	2019-07-05 14:41:32 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +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'

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80 entries on 1 page. Showing entries 1 - 80.

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
00391801	208P	-	-	M	no	Spain	-	-	-	-	-	ID, MKHK, RSTS	-	-	EP300	1	1	Alejandro Brea-Fernández
00435255	260872	-	-	M	no	Germany	-	-	-	-	-	MRLIAF, RSTS	Intellectual disability, Autistic behavior, Motor tics, Short stature, Neurodevelopmental delay, Tip-toe gait, 2-3 toe syndactyly, Abnormality of the face, Pes planus; mother and 3 brothers with syndactyly II and III bilateral	CREBBP, FOXP1	CREBBP, FOXP1	2	1	Andreas Laner
00442016	249	PubMed: Di Fede 2024	-	F	no	Italy	-	-	-	-	-	RSTS	HP:0001508, HP:0001290, HP:0001263, HP:0001249, HP:0000664, HP:0002553, HP:0000448, HP:0010761, HP:0002558, HP:0002015	-	HDAC2	1	1	Cristina Gervasini
00451679	patient	PubMed: Verma 2024, Journal: Verma 2024	-	-	-	India	-	-	-	-	-	RSTS	see paper; ...	CREBBP	CREBBP	1	1	Johan den Dunnen
00457746	-	-	-	M	-	- (not applicable)	white	-	-	-	-	RSTS	HP:0001249, HP:0000271, HP:0011304	-	CREBBP	1	1	Marketa Wayhelova
00464074	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464075	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464076	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464077	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, columella below alae nasi, broad thumbs/halluces; prominent forehead, low-set ears, microstomia, short neck, gastroesophageal reflux, diaphragmatic hernia	CREBBP	CREBBP	1	1	Johan den Dunnen
00464078	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464079	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464080	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464081	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, convex nasal ridge, highly arched palate, broad thumbs/halluces, mild intellectual disability; facial hemangioma, microstomia, brachydactyly, thin lips	CREBBP	CREBBP	1	1	Johan den Dunnen
00464082	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464083	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464084	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464085	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464086	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464087	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464088	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	columella below alae nasi, highly arched palate, broad distal phalanx fingers/toes, intellectual disability; hypertrichosis; strabismus, low-set displastic ears, short neck, urinary tract anomalies (congenital megaureter, renal diverticulum)	CREBBP	CREBBP	1	1	Johan den Dunnen
00464089	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	downslanted palpebral fissures, broad thumbs/halluces, intellectual disability, postnatal growth retardation; ptosis, brachidactyly, deformed thorax, urinary tract anomalies (congenital megaureter, non-functional right kidney)	CREBBP	CREBBP	1	1	Johan den Dunnen
00464090	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464091	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464092	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	downslanted palpebral fissures, convex nasal ridge; strabismus, low-set ears	CREBBP	CREBBP	1	1	Johan den Dunnen
00464093	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	2-generation family, 1 affected, unaffected non carrier parents	-	-	Russia	-	-	-	-	-	RSTS	downslanted palpebral fissures, broad thumbs/halluces, intellectual disability, postnatal growth retardation	CREBBP	CREBBP	1	1	Johan den Dunnen
00464094	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464095	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464096	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464097	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464098	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464099	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability, postnatal growth retardation; hypertrichosis; flat forehead, short neck	CREBBP	CREBBP	1	1	Johan den Dunnen
00464100	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464101	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464102	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, highly arched eyebrow, convex nasal ridge, columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability, postnatal growth retardation; strabismus, long eyelashes, supernumerary tooth, low anterior hairline	CREBBP	CREBBP	1	1	Johan den Dunnen
00464103	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464104	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464105	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	2-generation family, 1 affected, unaffected non carrier parents	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, highly arched eyebrow, convex nasal ridge, columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability, postnatal growth retardation; dacryocystitis, facial hemangioma, brachidactyly	CREBBP	CREBBP	1	1	Johan den Dunnen
00464106	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464107	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, highly arched eyebrow, convex nasal ridge, highly arched palate, typical smile, broad angulated thumbs, broad halluces, intellectual disability, postnatal growth retardation; strabismis, cryptorchidism	CREBBP	CREBBP	1	1	Johan den Dunnen
00464108	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	2-generation family, 1 affected, unaffected non carrier parents	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464109	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464110	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, highly arched eyebrow, columella below alae nasi, broad thumbs, halluces and distal phalanx of other fingers, intellectual disability, postnatal growth retardation; strabismus, hypermetropia, epicanthal folds thin lips, long philtrum, low-set ears, 2-3-4-5 finger cutaneous syndactyly, 1-2-3 toe syndactyly, short thorax, cardiovascular anomalies (bicuspid aortic valve, mild aortic valve stenosis)	CREBBP	CREBBP	1	1	Johan den Dunnen
00464111	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, highly arched eyebrow, columella below alae nasi, highly arched palate, broad thumbs/halluces/distal phalanx other fingers, intellectual disability, postnatal growth retardation; synophrys, overhanging nasal tip, long eyelashes, strabismus, epicanthal folds, dysplastic ears, auricular pit, short neck, scoliosis, cryptorchidism	CREBBP	CREBBP	1	1	Johan den Dunnen
00464112	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464113	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464114	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464115	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464116	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464117	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464118	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464119	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464120	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, highly arched eyebrow, columella below alae nasi, mild intellectual disability, postnatal growth retardation; hypertrichosis; obesity, absent speech, strabismus, epicanthal folds, low anterior hairline, overhanging nasal tip, cryptorchidism	CREBBP	CREBBP	1	1	Johan den Dunnen
00464121	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	downslanted palpebral fissures, highly arched eyebrow, broad thumbs/halluces/distal phalanx other fingers, intellectual disability, postnatal growth retardation; hypertrichosis shoulders; long philtrum, low- set dysplastic ears, short neck, low anterior hairline	CREBBP	CREBBP	1	1	Johan den Dunnen
00464122	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, highly arched eyebrow, convex nasal ridge, columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability, postnatal growth retardation; hypertrichosis; cryptorchidism, caliectasis, low anterior hairline, strabismus, epicanthal folds	CREBBP	CREBBP	1	1	Johan den Dunnen
00464123	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, highly arched eyebrow, broad thumbs/halluces, intellectual disability, postnatal growth retardation; low-set ears, short nose with overhanging nasal tip, duplicated tongue tip, inguinal hernia	CREBBP	CREBBP	1	1	Johan den Dunnen
00464124	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	downslanted palpebral fissures, highly arched palate, broad thumbs, duplicated halluces, intellectual disability, postnatal growth retardation; neck pterygium, hypoplastic teeth	CREBBP	CREBBP	1	1	Johan den Dunnen
00464125	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464126	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	downslanted palpebral fissures, convex nasal ridge, columella below alae nasi, broad thumbs/halluces, intellectual disability, postnatal growth retardation; hypertrichosis; epicanthal folds, cryptorchidism	CREBBP	CREBBP	1	1	Johan den Dunnen
00464127	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464128	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, highly arched eyebrow, columella below alae nasi, broad thumbs/halluces, intellectual disability, postnatal growth retardation; obesity, hypotonia	CREBBP	CREBBP	1	1	Johan den Dunnen
00464129	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464130	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	2-generation family, 1 affected, unaffected non carrier parents	-	-	Russia	-	-	-	-	-	RSTS	highly arched palate, broad thumbs/halluces, intellectual disability; hypertrichosis; hypotonia, conductive deafness, left ear canal atresia, narrow forehead, gastroesophageal reflux, diaphragmatic hernia, constipation	CREBBP	CREBBP	1	1	Johan den Dunnen
00464131	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464132	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, downslanted palpebral fissures, highly arched eyebrow, columella below alae nasi, broad thumbs/halluces, intellectual disability, postnatal growth retardation; hypertrichosis; obesity, scoliosis, strabismus, epicanthal folds, hypermetropia, low anterior hairline	CREBBP	CREBBP	1	1	Johan den Dunnen
00464133	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, convex nasal ridge, downslanted palpebral fissures, intellectual disability, postnatal growth retardation; hypertrichosis; normal thumbs and halluces, brachydactyly, cutaneous syndactyly of the 2nd and 3rd toes	CREBBP	CREBBP	1	1	Johan den Dunnen
00464134	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	broad thumbs/halluces, narrow palate, convex nasal ridge; intellectual disability, postnatal growth retardation; hypertrichosis; mild upslanted palpebral fissures, long eyelashes, ptosis, micrognathia, 2-3 toes cutaneous syndactyly, postaxial polydactyly of the left hand, atresia of the nasolacrimal duct, inguinal and umbilical hernia	CREBBP	CREBBP	1	1	Johan den Dunnen
00464135	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	syndromic neurodevelopmental disorder, query rubinstein-taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464136	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, (dismorfic facial features?), broad thumbs, duplicated halluces, moderate intellectual disability, postnatal growth retardation; cryptorchidism	EP300	EP300	1	1	Johan den Dunnen
00464137	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, convex nasal ridge, highly arched palate, broad thumbs/halluces, mild intellectual disability, postnatal growth retardation; external genital hypoplasia	EP300	EP300	1	1	Johan den Dunnen
00464138	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, highly arched eyebrow, broad thumbs/halluces, delayed development, postnatal growth retardation; maternal pre-eclampsia; broad nasal tip, epicanthal folds	EP300	EP300	1	1	Johan den Dunnen
00464139	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	EP300	EP300	1	1	Johan den Dunnen
00464140	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	SRCAP	SRCAP	1	1	Johan den Dunnen
00464141	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464142	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464143	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	Rubinstein-Taybi syndrome	CREBBP	CREBBP	1	1	Johan den Dunnen
00464144	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	gait abnormality, phenotype of rsts	CREBBP	CREBBP	1	1	Johan den Dunnen
00464145	-	PubMed: Ismagilova 2025, Journal: Ismagilova 2025	patient	-	-	Russia	-	-	-	-	-	RSTS	microcephaly, convex nasal ridge, columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability; maternal pre-eclampsia, hypertrichosis; strabismus, thin lips, enamel hypoplasia, carious teeth, ventricular noncompaction	EP300	EP300	1	1	Johan den Dunnen
00466033	Pat1	Journal: Wang 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	China	-	-	-	-	-	RSTS	see paper; ..., growth retardation; birth-35w, weight 3.0 kg, hypoxia. asphyxia	EP300	EP300	1	1	Johan den Dunnen
00466034	Pat2	Journal: Wang 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	China	-	-	-	-	-	RSTS	see paper; ..., growth retardation; birth-35w, weight 2.13 kg; preterm low birth weight; no intrauterine growth restriction noted	EP300	EP300	1	1	Johan den Dunnen
00467762	347452	-	-	M	no	Germany	-	-	-	-	-	RSTS	Intellectual disability, Hypoplastic fifth toenail, Clinodactyly, Shortening of all distal phalanges of the fingers, Obesity, Neurodevelopmental abnormality, Arrhythmia, Abnormality of the face	CREBBP	CREBBP	1	1	Andreas Laner

Legend

How to query

Global Variome shared LOVD

HIST1H2AA (histone cluster 1, H2aa)