Disease #04327 (CRS (craniosynostosis (CRS)))

Official abbreviation	CRS
Name	craniosynostosis (CRS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	64
Phenotype entries for this disease	46
Associated with 1 gene	TCF12
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-09-12 20:59:03 +02:00 (CEST)
Date last edited	N/A

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.

64 entries on 1 page. Showing entries 1 - 64.

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
00050112	-	PubMed: Babbs 2014, Journal: Babbs 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	autism, CRS	clinically diagnosed ASD, moderate intellectual disability (mother average IQ), nicoronal synostosis also present in mother	TCF20	TCF20	1	1	Johan den Dunnen
00063257	-	-	-	M	no	Netherlands	white	-	-	-	-	CRS	Right coronal suture synostosis bilateral camptodactyly of the fifth fingers divergent strabismus recurrent airway infections mild learning problems	-	TCF12	1	2	Jacqueline Goos
00079117	-	-	-	M	no	United Kingdom (Great Britain)	white	-	-	-	-	CRS	-	-	ZIC1	1	1	Kerry Miller
00079118	-	PubMed: Taylor 2015	-	M	no	-	Middle East	-	-	-	-	CRS	Flat mid-face, down-slanting palpebral fissures, low set ears, facial asymmetry, retracted pre-maxilla, right choanal stenosis, micrognathia, peg-like teeth with conical incisors, absent lateral incisors, pectus excavatum, scoliosis, long palms, slight digital shortening, mild 4/5 syndactyly of toes, Chiari malformation, moderate - severe learning difficulties.	-	HUWE1	1	1	Kerry Miller
00079119	-	PubMed: Taylor 2015	-	F	no	-	white	-	-	-	-	CRS	Learning difficulties	-	HUWE1	1	1	Kerry Miller
00152003	-	-	-	-	-	-	-	-	-	-	-	CRS	unicoronal synostosis, left (HP:0011315)	NOTCH2	NOTCH2	2	1	Anshuman Sewda
00152011	-	-	-	-	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis (HP:0004442)	FGFR3	FGFR3	1	1	Anshuman Sewda
00152044	-	-	-	-	-	-	-	-	-	-	-	CRS	bicoronal synostosis (HP:0011318), sagittal craniosynostosis (HP:0004442)	TWIST1	TWIST1	1	1	Anshuman Sewda
00152526	-	-	-	-	-	-	-	-	-	-	-	CRS	bicoronal synostosis (HP:0011318)	TWIST1	TWIST1	1	1	Anshuman Sewda
00152527	-	-	-	-	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis (HP:0004442)	BBS9	BBS9	1	1	Anshuman Sewda
00152528	-	-	-	-	-	-	-	-	-	-	-	CRS	unicoronal synostosis, right (HP:0011315)	BBS9	BBS9	1	1	Anshuman Sewda
00152529	-	-	-	-	-	-	-	-	-	-	-	CRS	unicoronal synostosis, left (HP:0011315)	EFNB1	EFNB1	1	1	Anshuman Sewda
00152530	-	-	-	-	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis (HP:0004442)	EFNB1	EFNB1	1	1	Anshuman Sewda
00219734	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	COL6A3	1	1	Madhuri Hegde
00219735	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	COL6A1, TTN	2	1	Madhuri Hegde
00219736	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	CAPN3, GAA	2	1	Madhuri Hegde
00219737	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	SYNE2	2	1	Madhuri Hegde
00219738	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	SGCB	2	1	Madhuri Hegde
00219739	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	COL6A1, SGCA	2	1	Madhuri Hegde
00219740	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	COL6A3, LMNA, SYNE1	3	1	Madhuri Hegde
00219741	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	COL6A1	1	1	Madhuri Hegde
00219742	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	SGCG	2	1	Madhuri Hegde
00219743	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	SYNE1	1	1	Madhuri Hegde
00219744	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	DYSF	1	1	Madhuri Hegde
00219745	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	DNAJB6, LMNA, POMGNT1	3	1	Madhuri Hegde
00219746	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	PLEC, TTN	3	1	Madhuri Hegde
00219747	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	CAPN3	1	1	Madhuri Hegde
00219748	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	CAPN3	1	1	Madhuri Hegde
00219751	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	CAPN3, DAG1, SYNE1	4	1	Madhuri Hegde
00219753	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	CRS, LGMD	-	-	COL6A2, DYSF, POMGNT1	3	1	Madhuri Hegde
00285854	FamPat1	PubMed: Vandervore 2019	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	no	Netherlands	-	-	-	-	-	CRS	see paper; ..., neonatal microcephaly, agenesis corpus callosum, brachycephaly with reduced volume posterior fossa, cerebellar and pons hypoplasia, scoliosis, tethered cord (closed neural tube defect)	ZIC1	ACTG1, ZIC1	2	2	Johan den Dunnen
00285855	FamPat2	PubMed: Vandervore 2019	younger sister	F	no	Netherlands	-	-	-	-	-	CRS	see paper; ..., neonatal microcephaly, agenesis corpus callosum, brachycephaly with reduced volume posterior fossa, cerebellar and pons hypoplasia, scoliosis, tethered cord (closed neural tube defect)	ZIC1	ZIC1	1	1	Johan den Dunnen
00285887	SAGFamily1	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, affected mother, son and daughter, unaffected heterozygous carrier grandparents	F;M	no	-	-	-	-	-	-	CRS	mother cranial dysmorphism; two children sagittal craniosynostosis	SPRY1	SPRY1	1	3	Johan den Dunnen
00285888	SAG150	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis	SPRY4	SPRY4	1	1	Johan den Dunnen
00285889	FamSMURF1	PubMed: Timberlake 2016, Journal: Timberlake 2016	-	-	-	-	-	-	-	-	-	CRS	sporadic metopic craniosynostosis	SMURF1	SMURF1	1	1	Johan den Dunnen
00285891	SAGMET101PatIII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	3-generation family, 1 affected, unaffected heterozygous carrier mother (de novo)	M	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis, metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	2	Johan den Dunnen
00285892	SAGMET104-1PatII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, 2 affected, unaffected heterozygous carrier father	M	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	3	Johan den Dunnen
00285893	SAGMET100-1PatII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	3-generation family, 2 affected, unaffected heterozygous carrier sister	F	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis, metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	3	Johan den Dunnen
00285894	SAG2220-1PatII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, 2 affected, unaffected heterozygous carrier father	M	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	2	Johan den Dunnen
00285895	SAG210-1PatIII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	3-generation family, 1 affected, unaffected heterozygous carrier father/grandmother	F	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	3	Johan den Dunnen
00285896	SAG158-1PatII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, 2 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	1	Johan den Dunnen
00285897	MET179-1PatII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	2	Johan den Dunnen
00285898	MET127-1PatII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, 1 affected, unaffected heterozygous carrier father/sister	F	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	3	Johan den Dunnen
00285899	MET148-1PatII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, 1 affected, unaffected heterozygous carrier father/sister	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	2	Johan den Dunnen
00285900	MET153-1PatII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	1	Johan den Dunnen
00285901	MET154-1PatII1/2	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, affected twin pair, unaffected heterozygous carrier father	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	3	Johan den Dunnen
00285902	MET111-1PatII1/2	PubMed: Timberlake 2016, Journal: Timberlake 2016	2-generation family, affected twin pair, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	2	Johan den Dunnen
00285903	MET115-1PatIII2	PubMed: Timberlake 2016, Journal: Timberlake 2016	3-generation family, 1 affected, unaffected heterozygous carrier father/grandfather	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	3	Johan den Dunnen
00285904	SAG-PROBAND3	PubMed: Timberlake 2016, Journal: Timberlake 2016	-	-	-	-	-	-	-	-	-	CRS	-	SMAD6	SMAD6	1	1	Johan den Dunnen
00285905	SAGMET107-1P	PubMed: Timberlake 2016, Journal: Timberlake 2016	-	-	-	-	-	-	-	-	-	CRS	-	SMAD6	SMAD6	1	1	Johan den Dunnen
00285908	SAGMET104-1PatII2	PubMed: Timberlake 2016, Journal: Timberlake 2016	brother	M	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	1	Johan den Dunnen
00285910	SAGMET100-1PatIII1	PubMed: Timberlake 2016, Journal: Timberlake 2016	nephew	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	1	Johan den Dunnen
00285921	Fam18PatII2/FamPat1	PubMed: Timberlake 2017, PubMed: Timberlake 2018	2-generation family, 1 affected, unaffected parents	F	no	United States	-	-	-	-	-	CRS	see paper; ..., sagittal craniosynostosis, coronal craniosynostosis, recurrence of CS within two months initial surgery requiring second operatio	BMP2, SMAD6, TCF12	BMP2, ENPP6, RIIAD1, SMAD6, SMOC1, TCF12, ZNF551	7	2	Johan den Dunnen
00285923	Fam14PatII1	PubMed: Timberlake 2017	-	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	1	Johan den Dunnen
00285927	Fam15PatIII1	PubMed: Timberlake 2017	grandson	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	1	Johan den Dunnen
00285929	Fam16PatII1	PubMed: Timberlake 2017	2-generation family, 1 affected	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	1	Johan den Dunnen
00285932	Fam17PatIII2	PubMed: Timberlake 2017	grandson	M	-	-	-	-	-	-	-	CRS	metopic craniosynostosis	BMP2, SMAD6	BMP2, SMAD6	2	1	Johan den Dunnen
00373335	Proband1	Singh R and Cohen ASA, et al. Cold Spring Harb Mol Case Stud, 2021.	-	M	-	United States	-	-	-	-	-	CRS, DD, macrocephaly	-	-	-	1	1	Stuart Scott
00436630	FamPatII1	PubMed: Nyboe 2015	2-generation family, 4 affected (F, 3M) father/daughter, 2 sons)	F	-	Denmark	-	-	-	-	-	CRS	see paper; ..., hypoplasia or abscent corpus callosum, ventriculomegaly, lambdoid craniosynostosis, macrocephaly, develomental delay, dysmorphic features, no urinary tract defects	-	NFIA	1	4	Johan den Dunnen
00436631	FamPatII2	PubMed: Nyboe 2015	brother	M	-	Denmark	-	-	-	-	-	CRS	see paper; ..., hypoplasia or abscent corpus callosum, ventriculomegaly, no craniosynostosis, macrocephaly, develomental delay, dysmorphic features, urinary tract defects	-	NFIA	1	1	Johan den Dunnen
00436632	FamPatII3	PubMed: Nyboe 2015	brother	M	-	Denmark	-	-	-	-	-	CRS	see paper; ..., hypoplasia or abscent corpus callosum, ventriculomegaly, lambdoid craniosynostosis, macrocephaly, develomental delay, dysmorphic features, no urinary tract defects	-	NFIA	1	1	Johan den Dunnen
00436633	FamPatI1	PubMed: Nyboe 2015	father	M	-	Denmark	-	-	-	-	-	CRS	see paper; ..., hypoplasia or abscent corpus callosum, no ventriculomegaly, sagittal craniosynostosis, macrocephaly, no develomental delay, no dysmorphic features, urinary tract defects	-	NFIA	1	1	Johan den Dunnen
00449718	21-4087	-	-	F	no	Italy	-	-	-	-	-	CRS	true hypotelorism, severe microcephaly, residual retrognathia, high arched palate with bifid uvula, dental crowding, mild scoliosis and generalized joint hypermobility with Beighton score 6/9, cleft palate	ERF	ERF	1	1	Carmela Fusco
00466071	-	-	-	M	no	China	-	-	-	-	-	CRS	-	IL11RA	IL11RA	1	1	Meiling Liu

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