All individuals with variants in gene CDKN1C

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.

72 entries on 1 page. Showing entries 1 - 72.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00016430	24065356-FamPatIV1	PubMed: Brioude 2013	4-generation family, 9 affecteds (9F), patient IV1	F	-	France	-	-	-	-	growth hormone therapy	SRS;RSS	-	1	9	Eamonn Maher
00016433	-	PubMed: Hamajima 2013	-	-	?	-	?	-	-	-	-	IMAGE	adrenal crisis; ear abnormality (HP:0000598); inruterine growth retardation (HP:0001511); genitourinary abnormalities (HP:0000078); abnormality nose (HP:0000366); frontal bossing (HP:0002007); cryptorchidism	1	1	Eamonn Maher
00016434	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	possible hypercalciuria (HP:0002150), adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003025; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism	1	1	Eamonn Maher
00016435	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); no short limbs (-HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003026; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); no short arms (-HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism	1	1	Eamonn Maher
00016436	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	possible adrenal hypoplasia, adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003027; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); osteopenia (HP:0000938); cryptorchidism	1	1	Eamonn Maher
00016437	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003028; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism	1	1	Eamonn Maher
00016438	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003029; abnormality nose (HP:0000366); frontal bossing (HP:0002007); no small epiphyses (-HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism	1	1	Eamonn Maher
00016439	-	PubMed: Romanelli 2010	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627);	1	1	Eamonn Maher
00016440	-	PubMed: Romanelli 2010	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627);	1	1	Eamonn Maher
00016441	-	PubMed: Engel 2000	-	-	?	-	?	-	-	-	-	BWS	-	1	1	Eamonn Maher
00016442	-	PubMed: Lee 1997	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); tumor	1	1	Eamonn Maher
00016443	-	PubMed: Li 2001	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor	1	1	Eamonn Maher
00016444	-	PubMed: Hatada 1996	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor	1	1	Eamonn Maher
00016445	-	PubMed: Li 2001	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no tumor	1	1	Eamonn Maher
00016446	-	Journal: Yatsuki 2013	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor	1	1	Eamonn Maher
00016447	-	PubMed: O’Keefe 1997	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor	1	1	Eamonn Maher
00016448	-	PubMed: Welsh 2011	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627);	1	1	Eamonn Maher
00016449	-	PubMed: Lam 1999	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor	1	1	Eamonn Maher
00016450	-	PubMed: Romanelli 2009	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ;	1	1	Eamonn Maher
00016451	-	Journal: Yatsuki 2013	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; no ear abnormality (-HP:0000598); no cleft palate (-HP:0000175); no macrosomia (-HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no naevus flammeus (-HP:0010733); tumor	1	1	Eamonn Maher
00016452	-	PubMed: Hatada 1997	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ; no tumor	1	1	Eamonn Maher
00016453	-	PubMed: Engel 2000	-	-	?	-	?	-	-	-	-	BWS	-	1	1	Eamonn Maher
00016454	-	Journal: Yatsuki 2013	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor	1	1	Eamonn Maher
00016455	-	PubMed: Lee 1997	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor	1	1	Eamonn Maher
00016456	-	PubMed: Lam 1999	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor	1	1	Eamonn Maher
00016457	-	PubMed: Kantaputra 2012	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ;	1	1	Eamonn Maher
00016458	-	PubMed: Romanelli 2010	-	-	?	-	?	-	-	-	-	BWS	no ear abnormality (-HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627);	1	1	Eamonn Maher
00016459	-	Journal: Yatsuki 2013	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor	1	1	Eamonn Maher
00016460	-	PubMed: Li 2001	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor	1	1	Eamonn Maher
00016461	-	PubMed: Li 2001, Journal: Yatsuki 2013	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); no macroglossia (-HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor	1	1	Eamonn Maher
00016462	-	PubMed: Hatada 1997	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor	1	1	Eamonn Maher
00016463	-	PubMed: Eggermann 2014	-	-	?	-	?	-	-	-	-	BWS	-	1	1	Eamonn Maher
00016464	-	PubMed: Li 2001	-	-	?	-	?	-	-	-	-	BWS	abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); no macrosomia (-HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor	1	1	Eamonn Maher
00016465	-	PubMed: Lam 1999	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor	1	1	Eamonn Maher
00016466	-	PubMed: Romanelli 2010	-	-	?	-	?	-	-	-	-	BWS	no ear abnormality (-HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627);	1	1	Eamonn Maher
00016467	-	PubMed: Hatada 1996	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor	1	1	Eamonn Maher
00016468	-	PubMed: Lam 1999	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor	1	1	Eamonn Maher
00016469	-	PubMed: Lam 1999, PubMed: Romanelli 2010	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627);	1	1	Eamonn Maher
00016470	-	PubMed: Romanelli 2010	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ;	1	1	Eamonn Maher
00016471	-	PubMed: Romanelli 2010	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ;	1	1	Eamonn Maher
00016472	-	PubMed: Lam 1999	-	-	?	-	?	-	-	-	-	BWS	ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); no macroglossia (-HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor	1	1	Eamonn Maher
00016473	-	PubMed: Percesepe 2008	mother (38y) referred for prenatal counselling due to diagnosis of recurrent omphalocele at 14w pregnancy; 20w therapeutical abortion 2y previously (ultrasonographic diagnosis massive omphalocele (6 cm diameter)); 3 earlier spontaneous abortions, all 6w pregnancy, healthy 5y son	M	no	Italy	-	-	-	-	-	BWS	see paper; ..., normal karyotype; placental mesenchymal dysplasia; ear abnormality (HP:0000598); macroglossia (HP:0000158); organomegaly; no hypoglycemia (-HP:0001943); naevus flammeus (HP:0010733) ;	1	1	Johan den Dunnen
00016474	-	PubMed: Aleck 1989, PubMed: Lew 2004	4-generation family, 5 affecteds (2F, 3M), 4 unaffected carriers (4F)	M	no	Canada	-	-	-	-	-	BWS	all affecteds inherited variant allele maternally;	3	1	Johan den Dunnen
00016475	-	PubMed: Tokino	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	23	Johan den Dunnen
00016476	-	-	2 cases	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00016477	-	-	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00016478	-	-	-	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00017598	-	PubMed: Casey 2014	4-generation family, 2 affecteds (brothers), unaffected heterozygous carrier parents and 4 relatives	M	yes	Ireland	Irish Traveller	-	-	-	-	CILD	see paper	1	2	Johan den Dunnen
00029770	-	-	-	-	-	Italy	-	-	-	-	-	-	-	1	2	Silvia Russo
00029837	-	-	-	-	no	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00029838	-	-	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00029840	-	-	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00032383	-	-	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00032384	-	-	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00032385	-	-	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00032386	-	-	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00032387	-	Russo, unpublished	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00032395	-	-	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00032396	-	-	-	-	-	Italy	-	-	-	-	-	BWS	-	1	1	Silvia Russo
00035163	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035164	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00080083	23225375-Pat	PubMed: Hu 2013, PubMed: Fokstuen 2013, for EUCID-SRS consortium	mother has balanced complex translocation	F	-	-	-	-	-	-	-	?, SRS;RSS	-	1	1	Zeynep Tümer
00080084	18798325-Pat2	PubMed: South 2008, PubMed: Fokstuen 2013, for EUCID-SRS consortium	-	F	-	-	-	-	-	-	-	SRS;RSS	-	1	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	-	1	1	Zeynep Tümer
00117203	24065356-FamPatIII6	PubMed: Brioude 2013, for EUCID-SRS consortium	-	F	-	France	-	-	-	-	-	SRS;RSS	-	1	1	Zeynep Tümer
00117204	24065356-FamPatIII4	PubMed: Brioude 2013, for EUCID-SRS consortium	-	F	-	France	-	-	-	-	-	SRS;RSS	-	1	1	Zeynep Tümer
00117205	24065356-FamPatII1	PubMed: Brioude 2013, for EUCID-SRS consortium	-	F	-	France	-	-	-	-	-	SRS;RSS	-	1	1	Zeynep Tümer
00266479	-	-	-	-	-	Argentina	Argentina	-	-	-	-	cancer	posterior fossa hemangioblastoma; no family history	1	1	Maximiliano Zeballos
00276033	-	-	-	M	-	-	-	-	-	-	-	?	Short stature (HP:0004322); Macrocephaly (HP:0000256); Prominent forehead (HP:0011220); Cryptorchidism (HP:0000028)	1	1	IMGAG
00290376	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	7	Mohammed Faruq
00316140	K2	PubMed: Heidet 2017	-	-	-	France	-	-	-	-	-	CAKUT	renal hypoplasia; hypospadias , polydactyly	1	1	Johan den Dunnen
00399727	patient	PubMed: Berland 2022	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	Norway	-	-	-	-	-	NDD	see paper; ..., 19wg omphalocele	1	1	Johan den Dunnen

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Global Variome shared LOVD

CDKN1C (cyclin-dependent kinase inhibitor 1C (p57,...))