All individuals with variants in gene MLC1

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.

587 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000382	-	PubMed: Anderson 2012, PubMed: Polvi 2012	This individual is reported twise, once in Anderson et al 2012 (F382) and once in Polvi et al. 2012 (F12:II-1)	M	no	Portugal	Portuguese	>03y08m	-	-	-	CRMCC	-	1	1	Anne Polvi
00050428	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	generalized hypotonia, global developmental delay	1	1	Johan den Dunnen
00147120	-	-	-	F	-	(Germany)	-	-	-	-	-	?	HP:0007239 (Congenital encephalopathy)	1	1	IMGAG
00229668	Fam1	PubMed: Ben-Zeev 2002	2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents	F;M	yes	Libya	jew	-	-	-	-	MLC	-	1	3	Johan den Dunnen
00229670	-	PubMed: Boor 2006	-	-	-	Brazil	-	-	-	-	-	MLC	-	1	1	SIB - Livia Famiglietti
00229671	-	PubMed: Boor 2006	-	-	-	Poland	-	-	-	-	-	MLC	-	1	1	SIB - Livia Famiglietti
00229679	-	PubMed: Boor 2006	-	-	-	Spain	-	-	-	-	-	MLC	-	1	2	SIB - Livia Famiglietti
00229682	-	PubMed: Boor 2006	-	-	-	Bangladesh;United Kingdom (Great Britain)	-	-	-	-	-	MLC	-	1	1	SIB - Livia Famiglietti
00269896	-	-	-	?	-	-	-	-	-	-	-	?	Global developmental delay (HP:0001263); Seizures (HP:0001250); Multifocal hyperintensity of cerebral white matter on MRI (HP:0040329)	1	1	IMGAG
00275592	-	-	-	F	-	-	-	-	-	-	-	?	Leukodystrophy (HP:0002415); Macrocephaly (HP:0000256); Muscular hypotonia (HP:0001252); Mild global developmental delay (HP:0011342)	1	1	IMGAG
00293153	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	239	Mohammed Faruq
00293154	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304912	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	9	Mohammed Faruq
00358880	MLC1	-	-	-	?	-	-	-	-	-	-	?	-	1	1	Muhammad Umair
00374400	S-5680	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Macrocephaly and brain MRI showed dysmyelination and liquefaction of areas of the temporal lobe	1	1	Johan den Dunnen
00374401	S-2324	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Macrocephaly, neuroregression and spasticity	1	1	Johan den Dunnen
00374783	S-1595	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00403871	TF060	PubMed: Froukh 2020	analysis 103 families with neurodevelopmental disorders	-	-	Jordan	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00441990	Pat9;Pat16	PubMed: Wang 2011, PubMed: Cao 2016	-	M	-	China	-	-	-	-	-	MLC	-	1	1	Rogier Min
00442017	M62	PubMed: Leegwater 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins)	-	yes	Japan	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442018	M66	PubMed: Leegwater 2001	-	-	-	Japan	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442019	M75	PubMed: Leegwater 2001	-	-	-	Turkey	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442020	M73	PubMed: Leegwater 2001	-	-	-	Japan	-	-	-	-	-	MLC	see paper; ...	2	1	Johan den Dunnen
00442021	FamML1PatM2/M4	PubMed: Leegwater 2001	2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents (1st cousins)	M;F	yes	Turkey	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442022	M112	PubMed: Leegwater 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins)	-	yes	Turkey	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442023	M14	PubMed: Leegwater 2001	-	-	-	India	-	-	-	-	-	MLC	see paper; ...	2	1	Johan den Dunnen
00442024	M20	PubMed: Leegwater 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins)	-	yes	Turkey	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442025	FamPatM39/M42	PubMed: Leegwater 2001	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents (1st cousins)	-	yes	-	Middle East	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442026	M81	PubMed: Leegwater 2001, PubMed: Leegwater 2002	-	-	-	Yugoslavia	-	-	-	-	-	MLC	see paper; ...	2	1	Johan den Dunnen
00442027	M23	PubMed: Leegwater 2001	-	-	-	Croatia (Hrvatska)	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442028	FamPatM31/M32	PubMed: Leegwater 2001	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents (1st cousins)	-	yes	Croatia (Hrvatska)	-	-	-	-	-	MLC	see paper; ...	2	1	Johan den Dunnen
00442029	M120	PubMed: Leegwater 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd cousins)	-	yes	Turkey	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442030	M44	PubMed: Leegwater 2002	-	-	-	India	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442031	M141	PubMed: Leegwater 2002	-	-	-	India	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442032	M198	PubMed: Leegwater 2002	-	-	-	India	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442033	FamPatM58/M59	PubMed: Leegwater 2002	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents (1st cousins)	-	yes	United Kingdom (Great Britain);Pakistan	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442034	M177	PubMed: Leegwater 2002	-	-	-	-	Africa-N	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442035	M57	PubMed: Leegwater 2002	-	-	-	Turkey	-	-	-	-	-	MLC	see paper; ...	7	1	Johan den Dunnen
00442036	M90	PubMed: Leegwater 2002	-	-	-	France	-	-	-	-	-	MLC	see paper; ...	7	1	Johan den Dunnen
00442037	M94	PubMed: Leegwater 2002	-	-	-	Croatia (Hrvatska)	-	-	-	-	-	MLC	see paper; ...	7	1	Johan den Dunnen
00442038	M89	PubMed: Leegwater 2002	-	-	-	United Kingdom (Great Britain)	Europe-E	-	-	-	-	MLC	see paper; ...	2	1	Johan den Dunnen
00442039	M147	PubMed: Leegwater 2002	-	-	-	Croatia (Hrvatska)	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442040	M180	PubMed: Leegwater 2002	-	-	-	-	America-N	-	-	-	-	MLC	see paper; ...	2	1	Johan den Dunnen
00442041	M8	PubMed: Leegwater 2002	-	-	-	Italy;Netherlands	-	-	-	-	-	MLC	see paper; ...	2	1	Johan den Dunnen
00442042	FamPatM150/M151	PubMed: Leegwater 2002	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	-	-	-	America-S	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442043	M155	PubMed: Leegwater 2002	-	-	-	Turkey	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442044	M192	PubMed: Leegwater 2002	-	-	-	France	-	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442045	control	PubMed: Leegwater 2002	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	6	1	Johan den Dunnen
00442046	control	PubMed: Boor 2006	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00442047	control	PubMed: Boor 2006	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00442048	control	PubMed: Leegwater 2002	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00442050	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00442051	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00442052	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	48	Johan den Dunnen
00442053	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	18	Johan den Dunnen
00442054	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	13	Johan den Dunnen
00442055	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	29	Johan den Dunnen
00442056	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00442057	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	31	Johan den Dunnen
00442058	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	11	Johan den Dunnen
00442059	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	23	Johan den Dunnen
00442060	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00442061	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	5	23	Johan den Dunnen
00442062	-	PubMed: Rubie 2003	analysis 140 cases periodic catatonia/100 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00442063	Pat1	PubMed: Rubie 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	MLC	-	2	1	Johan den Dunnen
00442064	Pat2	PubMed: Rubie 2003	-	-	-	-	-	-	-	-	-	MLC	-	1	1	Johan den Dunnen
00442065	Pat3	PubMed: Rubie 2003	-	-	-	-	-	-	-	-	-	MLC	s	1	1	Johan den Dunnen
00442066	Fam2	PubMed: Ben-Zeev 2002	2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents	F;M	yes	Libya	jew	-	-	-	-	MLC	-	1	2	Johan den Dunnen
00442067	Fam4	PubMed: Ben-Zeev 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Libya	jew	-	-	-	-	MLC	-	1	1	Johan den Dunnen
00442068	Fam6	PubMed: Ben-Zeev 2002	3-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents	F;M	yes	Libya	jew	-	-	-	-	MLC	-	1	2	Johan den Dunnen
00442069	Fam3	PubMed: Ben-Zeev 2002	3-generation family, 3 affected (3F), unaffected heterozygous carrier parents	F	yes	Turkey	jew	-	-	-	-	MLC	-	1	3	Johan den Dunnen
00442070	Fam5	PubMed: Ben-Zeev 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Israel;Libya	jew;jew-Ashkenazi	-	-	-	-	MLC	-	2	1	Johan den Dunnen
00442071	Fam7	PubMed: Ben-Zeev 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	India	-	-	-	-	-	MLC	-	1	1	Johan den Dunnen
00442072	LD1	PubMed: Gorospe 2004	-	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442073	LD2	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	2	1	Johan den Dunnen
00442074	LD3	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442075	LD5	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442076	LD6	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442077	LD8	PubMed: Gorospe 2004	-	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442078	LD9	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442080	LD12	PubMed: Gorospe 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442081	LD15	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442082	LD16	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442083	LD19	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442084	LD24	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442085	LD25	PubMed: Gorospe 2004	2-generation family, 2 affected sibs (2M), unaffected parents	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	2	Johan den Dunnen
00442086	LD26	PubMed: Gorospe 2004	sib	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442087	LD27	PubMed: Gorospe 2004	-	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442088	LD31	PubMed: Gorospe 2004	-	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442089	LD32	PubMed: Gorospe 2004	-	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442090	LD34	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442091	LD35	PubMed: Gorospe 2004	2-generation family, 2 affected sibs (F, M), unaffected parents	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442092	LD35A	PubMed: Gorospe 2004	sib	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	2	Johan den Dunnen
00442093	LD36	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442094	LD37	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442095	LD38	PubMed: Gorospe 2004	-	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442096	LD39	PubMed: Gorospe 2004	-	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442097	LD40A	PubMed: Gorospe 2004	2-generation family, 2 affected sibs (F, M), unaffected parents	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	2	Johan den Dunnen
00442098	LD40B	PubMed: Gorospe 2004	sib	M	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen
00442099	LD42	PubMed: Gorospe 2004	-	F	-	India	Agarwal	-	-	-	-	MLC	see paper; ...	1	1	Johan den Dunnen

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Global Variome shared LOVD

MLC1 (megalencephalic leukoencephalopathy with subc...)