Disease #00232 (SRS;RSS (Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))), OMIM:180860)

Official abbreviation	SRS;RSS
Name	Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))
OMIM ID	180860
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	115
Phenotype entries for this disease	113
Associated with 4 genes	CDKN1C, HMGA2, IGF2, PLAG1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-10-09 19:30:21 +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.

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Example	Matches
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115 entries on 2 pages. Showing entries 1 - 100.

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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
00004491	-	PubMed: Azzi 2009	-	?	?	France	-	-	-	-	-	SRS;RSS	-	PLAGL1	PLAGL1	1	1	Johan den Dunnen
00004492	-	PubMed: Azzi 2009	-	?	?	France	-	-	-	-	-	SRS;RSS	-	PLAGL1	PLAGL1	1	1	Johan den Dunnen
00004493	-	PubMed: Azzi 2009	-	?	?	France	-	-	-	-	-	SRS;RSS	-	PLAGL1	PLAGL1	1	1	Johan den Dunnen
00004494	-	PubMed: Azzi 2009	-	?	?	France	-	-	-	-	-	SRS;RSS	-	PLAGL1	PLAGL1	1	1	Johan den Dunnen
00004495	-	PubMed: Azzi 2009	-	?	?	France	-	-	-	-	-	SRS;RSS	-	PLAGL1	PLAGL1	1	1	Johan den Dunnen
00004496	-	PubMed: Azzi 2009	-	?	?	France	-	-	-	-	-	SRS;RSS	-	PLAGL1	PLAGL1	1	1	Johan den Dunnen
00004497	-	PubMed: Azzi 2009	-	?	?	France	-	-	-	-	-	SRS;RSS	-	PLAGL1	PLAGL1	1	1	Johan den Dunnen
00016430	24065356-FamPatIV1	PubMed: Brioude 2013	4-generation family, 9 affecteds (9F), patient IV1	F	-	France	-	-	-	-	growth hormone therapy	SRS;RSS	prominent forehead (HP:0011220)	CDKN1C	CDKN1C	1	9	Eamonn Maher
00024934	-	PubMed: Eggermann 2013	-	M	no	Germany	-	>04y	-	-	-	SRS;RSS	see paper for detailed description	MEST	MEST	1	1	Johan den Dunnen
00027197	-	PubMed: Kagami 2014	-	M	no	Japan	-	-	-	-	-	SRS;RSS	karyotype 46XY, birth length 46.5cm (-2.1 SD), birth weight 2.2 kg (-2.7 SD), birth occipitofrontal circumference 32.5cm (-0.7 SD); present height 120.4cm (-2.3 SD), present weight 26.5kg (-0.7 SD), BMI 18.3 (+1.0 SD), present occipitofrontal circumference 51.5cm (-0.9 SD); speech delayed (HP:0000750); small hands (HP:0200055); single palmar crease (HP:0000954); brachydactyly (HP:000156); clinodactyly (HP:0030084); joint hypermobility (HP:0001382); ear abnormality (HP:0000598); irregular teeth (HP:0040079); no precocious puberty (-HP:0000826); no intellectual disability (-HP:0001249); muscular hypotonia (HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220)	GNAS, H19, KCNQ1, MEG3, MEST, PLAGL1, SNRPN	H19, KCNQ1, MEG3, MEST, PLAGL1, SNRPN	52	1	Johan den Dunnen
00027198	-	PubMed: Kagami 2014	in vitro fertilization-embryo transfer	F	no	Japan	-	-	-	-	7y-gonadotropin-releasing hormone analog (precocious puberty, breast development)	SRS;RSS	karyotpe 46XX, birth length 36.5cm (-6.0 SD), birth weight 1.2 kg (-4.6 SD), birth occipitofrontal circumference 30.0 cm (-2.0 SD); menarche 8y8m (normal 12.3y +/-1.3y); present height 125.5cm (-1.0 SD), present weight 22.3kg (-1.2 SD), BMI 14.2 (-1.1 SD), present occipitofrontal circumference 50.3cm (-1.5 SD); recurrent otitis media (HP:0000403); small hands (HP:0200055); no single palmar crease (-HP:0000954); no brachydactyly (-HP:000156); clinodactyly (HP:0030084); puberty, precocious (HP:0000826); no intellectual disability (-HP:0001249); no muscular hypotonia (-HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220)	GNAS, H19, KCNQ1, MEG3, MEST, PLAGL1, SNRPN	H19, KCNQ1, MEG3, MEST, PLAGL1, SNRPN	18	1	Johan den Dunnen
00080067	Pat?	PubMed: Eggermann 2012, for EUCID-SRS consortium	-	M	-	Germany	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	MEST	1	1	Zeynep Tümer
00080068	26663145-Pat	PubMed: Carrera 2015, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080069	10987657-FamPatLB	PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium	daughter of TB	F	-	United Kingdom (Great Britain)	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	GRB10, IGFBP1	1	1	Zeynep Tümer
00080070	10987657-FamPatTB	PubMed: Joyce 1999, PubMed: Monk 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium	2-generation family, affected mother/Daughter, mother of patient LB	F	-	United Kingdom (Great Britain)	-	-	-	-	-	?, SRS;RSS	-	-	GRB10, IGFBP1	1	2	Zeynep Tümer
00080072	11829489-Pat5	PubMed: Nakabayashi 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	M	-	Canada	-	-	-	-	-	?, SRS;RSS	-	-	C7orf10	1	1	Zeynep Tümer
00080073	10631135-PatDP, 11829489-Pat4	PubMed: Monk 2000, PubMed: Monk 2002, PubMed: Nakabayashi 2002, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	-	-	GRB10, IGFBP1, IGFBP3	1	1	Zeynep Tümer
00080074	10227403-Pat	PubMed: Miyoshi 1999, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	3	1	Zeynep Tümer
00080075	12384779-PatAM	PubMed: Monk 2002, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	1	1	Zeynep Tümer
00080076	12384779-PatAG	PubMed: Monk 2002, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	1	1	Zeynep Tümer
00080077	12384779-PatTP	PubMed: Monk 2002, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	4	1	Zeynep Tümer
00080078	12384779-FamPatHC	PubMed: Monk 2002, for EUCID-SRS consortium	2-generation family, affected mother/son, mother of patient AC	F	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	1	2	Zeynep Tümer
00080079	12384779-FamPatAC	PubMed: Monk 2002, for EUCID-SRS consortium	son of patient HC	M	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	1	1	Zeynep Tümer
00080080	12384779-PatPW	PubMed: Monk 2002, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	1	1	Zeynep Tümer
00080081	16317300-Pat	PubMed: Eggermann 2006, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	3	1	Zeynep Tümer
00080082	11754068-Pat?	PubMed: Kato 2001, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00080083	23225375-Pat	PubMed: Hu 2013, PubMed: Fokstuen 2013, for EUCID-SRS consortium	mother has balanced complex translocation	F	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	CDKN1C, IGF2	3	1	Zeynep Tümer
00080084	18798325-Pat2	PubMed: South 2008, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	CDKN1C, IGF2	2	1	Zeynep Tümer
00080085	19735747-PatAII3	PubMed: Bliek 2009, PubMed: Begemann 2012, PubMed: Fokstuen 2013, PubMed: Brown 2014, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	CDKN1C, IGF2	4	1	Zeynep Tümer
00080086	21920939-SRSPat1	PubMed: Chiesa 2012, PubMed: Begemann 2012, PubMed: Fokstuen 2013, PubMed: 24668696, for EUCID-SRS consortium	another patient in family with same karyotype paternally inherited BWS	M	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	-	3	1	Zeynep Tümer
00080087	21780245-PatS72P	PubMed: Demars 2011, PubMed: Brown 2014, for EUCID-SRS consortium	mother has duplication paternally inherited	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00080088	22844132-PatM11221	PubMed: Begemann 2012, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium	2-generation family, 1 affected; two sisters have duplication but no UPD6 (mat)	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	4	1	Zeynep Tümer
00080089	22844132-PatM6443	PubMed: Begemann 2012, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080090	21278389-Pat1	PubMed: Grønskov 2010, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	H19	3	1	Zeynep Tümer
00080091	21278389-Pat2	PubMed: Grønskov 2010, for EUCID-SRS consortium	patient has sister (patient 3) with same phenotype and aberration	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	3	2	Zeynep Tümer
00080092	21278389-Pat4	PubMed: Grønskov 2010, PubMed: Murphy 2008, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	5	1	Zeynep Tümer
00080093	16963484-Pat	PubMed: Schönherr 2007, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00080094	24668696-PatIV5	PubMed: Brown 2014, for EUCID-SRS consortium	4-generation family, 4 affected females, 2 unaffected heterozygous carriers (F, M), affected when maternally inherited, patient IV.5	F	-	United States	-	-	-	-	-	?, SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	3	4	Zeynep Tümer
00080095	24550760-Pat	PubMed: Palumbo 2014, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080096	23243085-Fet2	PubMed: Crescenzo 2013, for EUCID-SRS consortium	family, 2 affected fetuses, fetus 1 affected similarly	-	-	-	-	<00y00m	-	-	-	?, SRS;RSS	-	-	KCNQ1, KCNQ1OT1	2	2	Zeynep Tümer
00080097	21910219-PatIII7	PubMed: 21910219, PubMed: 24664587, PubMed: 24668696, for EUCID-SRS consortium	familial aberration, several carriers, several affected when maternally inherited	M	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	2	1	Zeynep Tümer
00080098	15863658-PatSR46	PubMed: Eggermann 2005, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	2	1	Zeynep Tümer
00080099	15863658-PatSR90	PubMed: Eggermann 2005, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00080100	20503324-Fam	PubMed: Eggermann 2010, PubMed: Eggermann 2014, PubMed: Brown 2014, for EUCID-SRS consortium	familial transloction	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	4	1	Zeynep Tümer
00080101	12215843-Pat1	PubMed: Fisher 2002, PubMed: Fokstuen 2013, PubMed: Brown 2014, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	1	1	Zeynep Tümer
00080102	12215843-Pat2	PubMed: Fisher 2002, PubMed: Fokstuen 2013, PubMed: Brown 2014, for EUCID-SRS consortium	mother 46,XX,t(11;20)(p15.3;q13.33)	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00080103	12215843-Pat3	PubMed: Fisher 2002, for EUCID-SRS consortium	mother 46,XY,t(15)t(11;15)(p11.2;q11.2)	M	-	-	-	<00y00m	-	-	-	?, SRS;RSS	-	-	-	2	1	Zeynep Tümer
00080104	20028213-Pat	PubMed: Cardarelli 2010, PubMed: Fokstuen 2013, for EUCID-SRS consortium	mother has BWS and same microduplication (paternally inherited)	F	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	-	3	1	Zeynep Tümer
00080105	08403458-Pat	PubMed: Midro 1993, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	-	-	-	4	1	Zeynep Tümer
00080106	25951829-Pat	PubMed: Azzi 2015, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080107	22683032-PatSR9116	PubMed: Spengler 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	1	1	Zeynep Tümer
00080108	22683032-PatSR5695	PubMed: Spengler 2012, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080109	12161598-Pat	PubMed: VanHaelst 2002 PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	-	-	-	1	1	Zeynep Tümer
00080110	10406663-Pat	PubMed: Lacassie 1999, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	2	1	Zeynep Tümer
00080111	27172843-PatSR-KL	PubMed: Sachwitz 2016, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	WHSC1	2	1	Zeynep Tümer
00080112	27172843-PatSRS-ER	PubMed: Sachwitz 2016, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080113	07515753-Pat	PubMed: Schinzel 1994 PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	1	1	Zeynep Tümer
00080114	19762329-PatSR29	PubMed: Spengler 2010, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	HMGA2, LEMD3	1	1	Zeynep Tümer
00080115	24658748-PatSRS-TM	PubMed: Eggermann 2014, PubMed: Sachwitz 2016, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	-	-	-	2	1	Zeynep Tümer
00080116	22683032-PatSR6882	PubMed: Spengler 2012, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	IGF1R	1	1	Zeynep Tümer
00080117	19752157-PatSRS-ue-6	PubMed: Bruce 2009, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	IGF1R	1	1	Zeynep Tümer
00080118	22683032-PatSR596/07	PubMed: Spengler 2012, PubMed: Spengler 2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	ANKRD11, SPG7	1	1	Zeynep Tümer
00080119	22683032-PatSR8464	PubMed: Spengler 2012, PubMed: Fokstuen2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080120	22683032-PatPSR10177	PubMed: Spengler 2012, PubMed: Fokstuen2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080121	22903743-Pat	PubMed: Coutton 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00080122	23533668-Pat73	PubMed: Fuke 2013, for EUCID-SRS consortium	-	?	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080123	01633648-Pat	PubMed: Ramírez-Duenas 1992, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	4	1	Zeynep Tümer
00080125	23745689-Pat	PubMed: Eggermann 2014, PubMed: Eggermann 2014, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00080126	27172843-PatSR-GG	PubMed: Sachwitz 2016, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	-	-	-	1	1	Zeynep Tümer
00080127	22683032-PatSR1251/06	PubMed: Spengler 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	?, SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	1	1	Zeynep Tümer
00080128	22683032-PatSR6820	PubMed: Spengler 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium	2-generation family, sister SR10737 and mother had IUGR and PNGR	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080129	19752157-PatSRS-ue-4	PubMed: Bruce 2009, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	1	1	Zeynep Tümer
00080130	19752157-PatSRS-ue-5	PubMed: Bruce 2009, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	M	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080131	22683032-PatSR7705	PubMed: Spengler 2012, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	?, SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00080132	27172843-PatSRS-AB	PubMed: Sachwitz 2016, for EUCID-SRS consortium	-	F	-	Germany	-	-	-	-	-	?, SRS;RSS	-	-	-	1	1	Zeynep Tümer
00103959	28489339-Pat1	PubMed: Yamoto 2017	-	M	no	Japan	-	-	-	-	-	SRS;RSS	brachydactyly (HP:000156); clinodactyly (HP:0030084); prominent forehead (HP:0011220)	-	IGF2	1	1	Kaori Yamoto
00117196	25809938-PatII3	PubMed: De Crescenzo 2015, for EUCID-SRS consortium	3-generation family, 4 affecteds (3F, M), mother II3	F	-	Italy	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	HMGA2	HMGA2	1	4	Zeynep Tümer
00117197	25809938-PatIII1	PubMed: De Crescenzo 2015, for EUCID-SRS consortium	daughter III1	F	-	Italy	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	HMGA2	HMGA2	1	1	Zeynep Tümer
00117198	28796236-Pat	PubMed: Abi Habib 2017, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	HMGA2	HMGA2	1	1	Zeynep Tümer
00117199	28796236-Pat	PubMed: Abi Habib 2017, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	HMGA2	HMGA2	1	1	Zeynep Tümer
00117200	28796236-FamPatI2	PubMed: Abi Habib 2017, for EUCID-SRS consortium	2-generation family, 3 affecteds, mother PatI2	F	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	PLAG1	PLAG1	1	3	Zeynep Tümer
00117201	28796236-FamPatII1	PubMed: Abi Habib 2017, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	PLAG1	PLAG1	1	1	Zeynep Tümer
00117202	28796236-PatII2	PubMed: Abi Habib 2017, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	PLAG1	PLAG1	1	1	Zeynep Tümer
00117203	24065356-FamPatIII6	PubMed: Brioude 2013, for EUCID-SRS consortium	-	F	-	France	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	CDKN1C	CDKN1C	1	1	Zeynep Tümer
00117204	24065356-FamPatIII4	PubMed: Brioude 2013, for EUCID-SRS consortium	-	F	-	France	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	CDKN1C	CDKN1C	1	1	Zeynep Tümer
00117205	24065356-FamPatII1	PubMed: Brioude 2013, for EUCID-SRS consortium	-	F	-	France	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	CDKN1C	CDKN1C	1	1	Zeynep Tümer
00117206	24065356-Pat	PubMed: Brioude 2013, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	IGF2	IGF2	1	1	Zeynep Tümer
00117207	28796236-Pat	PubMed: Abi Habib 2017, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	IGF2	IGF2	1	1	Zeynep Tümer
00117208	26154720-FamPatIII3	PubMed: Begemann 2015, for EUCID-SRS consortium	4-generation family, 4 affecteds (2F, 2M), patient III3	M	-	Germany	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	IGF2	IGF2	1	4	Zeynep Tümer
00117209	26154720-FamPatIII4	PubMed: Begemann 2015, for EUCID-SRS consortium	pat III4	F	-	Germany	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	IGF2	IGF2	1	1	Zeynep Tümer
00117210	26154720-FamPatIII7	PubMed: Begemann 2015, for EUCID-SRS consortium	-	F	-	Germany	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	IGF2	IGF2	1	1	Zeynep Tümer
00117211	26154720-FamPatIIV1	PubMed: Begemann 2015, for EUCID-SRS consortium	-	F	-	Germany	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	IGF2	IGF2	1	1	Zeynep Tümer
00117212	28515796-Pat1	PubMed: Inoue 2017, for EUCID-SRS consortium	-	-	-	Japan	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00117213	28515796-Pat4	PubMed: Inoue 2017, for EUCID-SRS consortium	-	-	-	Japan	-	-	-	-	-	SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	1	1	Zeynep Tümer
00117214	28515796-Pat5	PubMed: Inoue 2017, for EUCID-SRS consortium	-	-	-	Japan	-	-	-	-	-	SRS;RSS	see paper; ..., no prominent forehead (-HP:0011220)	-	-	1	1	Zeynep Tümer
00117215	28515796-Pat3	PubMed: Inoue 2017, for EUCID-SRS consortium	-	-	-	Japan	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	1	1	Zeynep Tümer
00117216	27701793-Pat1	PubMed: Abi Habib 2017, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00117217	27701793-Pat2	PubMed: Abi Habib 2017, for EUCID-SRS consortium	-	-	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00117218	27701793-Fam	PubMed: Abi Habib 2017, for EUCID-SRS consortium	familial case	-	-	-	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	2	1	Zeynep Tümer
00117219	25427884-FamAPat1	PubMed: Nakashima 2015, for EUCID-SRS consortium	2-generation family, 2 affecteds, case 1	-	-	Japan	-	-	-	-	-	SRS;RSS	prominent forehead (HP:0011220)	-	-	4	2	Zeynep Tümer

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Global Variome shared LOVD

CCL27 (chemokine (C-C motif) ligand 27)