Disease #03186 (CCDS2;GAMTD (deficiency, cerebral creatine, syndrome, type 2 (CCDS2, guanidinoacetate methyltransferase deficiency (GAMTD))), OMIM:612736)

Official abbreviation	CCDS2;GAMTD
Name	deficiency, cerebral creatine, syndrome, type 2 (CCDS2, guanidinoacetate methyltransferase deficiency (GAMTD))
OMIM ID	612736
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	101
Phenotype entries for this disease	101
Associated with 1 gene	GAMT
Associated tissues	-
Disease features	autosomal recessive
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-05-07 10:04:24 +02:00 (CEST)

Individuals

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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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Operator	Column type	Example	Matches
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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

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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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101 entries on 2 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00080978	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	CCDS2;GAMTD	Cerebral creatine deficiency syndrome 2 (OMIM:612736)	GAMT	GAMT	1	1	Daniel Trujillano
00184633	-	PubMed: Item 2004	-	M	-	Germany	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184634	-	PubMed: Item 2004	-	F	-	Germany	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184637	-	PubMed: Item 2004	-	-	-	Germany	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184638	-	PubMed: Item 2004	-	M	-	Germany	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184639	-	PubMed: Item 2004	-	F	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184642	-	PubMed: Item 2004	-	F	-	United States	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184643	-	PubMed: Item 2004	-	M	-	United States	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184647	-	Mahmutoglu et al, in preparation	-	M	-	United States	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184648	-	Mahmutoglu et al, in preparation	-	F	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184651	-	PubMed: Cheillan 2012	-	F	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184653	-	Mahmutoglu et al, in preparation	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184660	-	PubMed: Caldeira Araujo 2005, Mahmutoglu et al, in preparation	-	F	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184661	-	PubMed: Almeida 2007	-	M	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184662	-	PubMed: Almeida 2007	-	M	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184665	-	PubMed: Almeida 2007	-	F	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184666	-	PubMed: Item 2004	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184668	-	PubMed: Almeida 2007	-	M	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184669	-	PubMed: Almeida 2007	-	M	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184672	-	PubMed: Almeida 2007	-	M	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184673	-	PubMed: Mercimek-Mahmutoglu 2006	-	M	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184676	-	Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009	-	M	-	United States	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184677	-	Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009	-	M	-	United States	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184680	-	PubMed: Almeida 2007	-	F	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184681	-	PubMed: Item 2004	-	F	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184684	-	PubMed: Almeida 2007	-	F	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184685	-	PubMed: Almeida 2007	-	F	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184689	-	PubMed: Almeida 2007	-	M	-	Portugal	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184690	-	PubMed: Carducci 2000	-	M	-	Germany	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184697	-	Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009	-	F	-	Ireland	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184698	-	Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009	-	F	-	Ireland	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184701	-	PubMed: Item 2004	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184704	-	Mahmutoglu et al, in preparation	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184705	-	PubMed: Comeaux 2013, Mahmutoglu et al, in preparation	-	F	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184708	-	PubMed: Morris 2006	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184710	-	PubMed: Comeaux 2013, Mahmutoglu et al, in preparation	-	F	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184713	-	PubMed: Item 2004	-	F	-	United States	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184714	-	PubMed: Item 2004	-	F	-	United States	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184717	-	Mahmutoglu et al, in preparation	-	F	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184722	-	PubMed: Item 2004	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184724	-	PubMed: Caldeira Araujo 2005, Mahmutoglu et al, in preparation	-	M	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184725	-	PubMed: Cheillan 2012	-	F	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184726	-	PubMed: Item 2004	-	F	-	Canada	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184727	-	PubMed: Sempere 2009	-	M	-	Spain	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184728	-	PubMed: Item 2004	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184729	-	Mahmutoglu et al, in preparation	-	F	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184732	-	PubMed: Dhar 2009	-	M	-	Canada	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184733	-	PubMed: Dhar 2009	-	F	-	Canada	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184734	-	PubMed: Item 2004	-	F	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184737	-	Mahmutoglu et al, in preparation	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184738	-	PubMed: Sempere 2009	-	M	-	Turkey	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184739	-	PubMed: Item 2004	-	F	-	Norway	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184740	-	PubMed: Item 2004	-	M	-	Switzerland	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184746	-	PubMed: Item 2004	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184747	-	PubMed: Item 2004	Patient no 12 in Item et al, 2004	-	-	Egypt	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184750	-	PubMed: Mercimek-Mahmutoglu 2006	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184753	-	PubMed: Item 2004	Patient no 7 in Item et al, 2004	F	-	-	Kosovo	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184754	-	PubMed: Item 2004	Patient no 8 in Item et al, 2004	F	-	-	Kosovo	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184757	-	PubMed: Item 2004	Patient no 9 in Item et al, 2004	-	-	Turkey	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184760	-	PubMed: Item 2004	Patient no 10 in Item et al, 2004	-	-	Turkey	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184763	-	PubMed: Item 2004	Patient no 11 in Item et al, 2004	-	-	Spain	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184766	-	PubMed: Item 2004	Patient no 13 in Item et al, 2004	-	-	Turkey	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184769	-	PubMed: Akiyama 2013	-	-	-	Japan	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184770	-	PubMed: Viau 2013	Patient no 1 in Viau et al, 2013	F	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184771	-	PubMed: Viau 2013	Patient no 2 in Viau et al, 2013	F	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184772	-	PubMed: Viau 2013	Patient no 5 in Viau et al, 2013	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184773	-	PubMed: Viau 2013	Patient no 3 in Viau et al, 2013	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184774	-	PubMed: Cheillan 2012	-	-	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184775	-	PubMed: Cheillan 2012	-	-	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184776	-	PubMed: Cheillan 2012	-	M	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184779	-	PubMed: Cheillan 2012	-	-	-	France	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184780	-	{PMID23583224:El-Gharbawy 2013	Subject no 1 in El-Gharbawy et al, 2013	-	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184783	-	{PMID23583224:El-Gharbawy 2013	Subject 2 in El-Gharbawy et al, 2013	-	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184784	-	{PMID23583224:El-Gharbawy 2013	Subject 3 in El-Gharbawy et al, 2013	-	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184785	-	PubMed: Dhar 2009	Patient no 1 in Dhar et al, 2009	F	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184786	-	PubMed: Dhar 2009	Patient no 2 in Dhar et al, 2009	F	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184787	-	PubMed: Dhar 2009	Patient no 3 in Dhar et al, 2009	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184788	-	PubMed: Dhar 2009	Patient no 4 in Dhar et al, 2009	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184789	-	PubMed: Dhar 2009	Patient no 5 in Dhar et al, 2009	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184790	-	PubMed: Dhar 2009	Patient no 6 in Dhar et al, 2009	F	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184791	-	PubMed: Dhar 2009	Patient no 7 in Dhar et al, 2009	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184792	-	{PMID23660394:Comeaux 2013	Patient B2 in Comeaux et al, 2013	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184793	-	{PMID23660394:Comeaux 2013	Patient B12 in Comeaux et al, 2013	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184794	-	{PMID23660394:Comeaux 2013	Patient B13 in Comeaux et al, 2013	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184795	-	Mahmutoglu et al, in preparation	Patient from Lund/ Christensen	F	-	Denmark	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184796	-	PubMed: Leuzzi 2006	-	F	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184797	-	PubMed: Sempere 2009	-	-	-	Spain	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184798	-	PubMed: Carducci 2000	-	M	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184801	-	PubMed: Bodamer 2009	-	-	-	-	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184804	-	PubMed: Item 2004	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184805	-	PubMed: Item 2004	-	M	-	Israel	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184808	-	Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184819	-	PubMed: Item 2004	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184820	-	PubMed: Item 2004	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184821	-	PubMed: Item 2004	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184822	-	PubMed: Carducci 2000	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184823	-	PubMed: Carducci 2000	-	F	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184824	-	PubMed: Carducci 2000	-	M	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons
00184825	-	PubMed: Cheillan 2012	-	F	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	2	1	Gajja Salomons
00184826	-	PubMed: Cheillan 2012	-	F	-	Netherlands	-	-	-	-	-	CCDS2;GAMTD	-	GAMT	GAMT	1	1	Gajja Salomons

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Global Variome shared LOVD

MYBPC1 (myosin binding protein C, slow type)