All individuals with variants in gene LARGE

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.

61 entries on 1 page. Showing entries 1 - 61.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00054665	-	PubMed: O'Grady 2016	-	F	-	Australia	-	>19y	-	-	MDC	gross motor delay, walked age 6y with support, moderate cognitive delay, leukodystrophy; CPK elevated (5000-7000); IHC alphaDG; histology dystrophic	1	1	Sandra Cooper
00054683	Pat98	PubMed: O'Grady 2016	2-generation family, unaffected heterozygous carrier parents	M	-	Australia	-	>09y	-	-	MDC	infantile hypotonia, gross motor delay, MRI - white matter abnormalities; CPK elevated); IHC alphaDG; histology dystrophic	2	1	Sandra Cooper
00152609	-	PubMed: Longman 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	British	-	-	-	MDC	developmental delay, hypotonia, mirror movements upper limbs, maximal motor function 9y (walk 200 yards, jump) since then gradual deterioration mobility; CPK 467-4500; intellectual disability; sit 2.5y, walk 4.5y	2	1	Johan den Dunnen
00152610	-	PubMed: van Reeuwijk 2007	unaffected carrier parents second degree cousins; brother of 17436019.1	M	-	Saudi Arabia	-	-	-	-	WWS	phenotype see paper; CPK 180x	1	1	Johan den Dunnen
00152611	-	PubMed: van Reeuwijk 2007	unaffected carrier parents second degree cousins; sister of 17436019.2	F	-	Saudi Arabia	-	-	-	-	WWS	phenotype see paper; CPK 10-286x	1	1	Johan den Dunnen
00152612	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152613	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00152614	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152615	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00152616	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152617	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00152618	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152619	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152620	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152621	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152622	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152623	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00152624	-	PubMed: Clement	-	-	-	-	-	-	-	-	WWS	contractures, retinal detachmenty, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, lissencephaly, feeding difficulties, RIP 8w; ?microcephaly; CPK 5700; intellectual disability; no motor milestones	2	1	Johan den Dunnen
00152625	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00152626	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00152627	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00152628	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00152629	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00152630	-	L Medne ASHG 2010 A1669	-	-	-	-	-	-	-	-	MDC	MRI brain white matter chanes, cortical migrational abnormalities	2	1	Johan den Dunnen
00152631	-	PubMed: Clement	-	-	-	-	-	>14y	-	-	MDC	no microcephaly, nystagmus, abnormal ERG; CPK 4500; intellectual disability	2	1	Johan den Dunnen
00152632	-	PubMed: Clement	-	-	-	-	-	>1y	-	-	MEB	no microcephaly, myopia; CPK 400; intellectual disability	2	1	Johan den Dunnen
00152633	-	PubMed: Mercuri 2009	-	-	-	-	-	-	-	-	WWS	no microcephaly, no epilepsy, MRI WWS-type, ?eye involvement; CPK 10x; intellectual disability; head control	1	1	Johan den Dunnen
00152634	-	PubMed: Clarke 2011	unaffected carrier first-cousin parents; sister of 21248746-Pat2	F	yes	Lebanon	-	-	-	-	MDC	delayed motor milestones; CPK 30x; intellectual disability (IQ 61); sit 9m, stood 2.5y, stairs 8y, never run	1	1	Johan den Dunnen
00152635	-	PubMed: Clarke 2011	unaffected carrier first-cousin parents; sister of 21248746-Pat1	F	yes	Lebanon	-	-	-	-	MDC	generalised hypotonia, mild myopia; CPK 60x; stood 16m, walk 2y	1	1	Johan den Dunnen
00152636	-	PubMed: Vuillaumier-Barrot 2011	-	-	no	-	-	-	-	-	LIS	22w pregnancy termination because of reoccurrence severe quadriventricular hydrocephalus/cerebellar hypoplasia (like fetus F1); fetus dysmorphic features, horizontal narrow palpebral slit, bulging eyes, hypertrichosis cheeks/shoulders	2	1	Johan den Dunnen
00152637	-	PubMed: Vuillaumier-Barrot 2011	-	-	no	-	-	-	-	-	LIS	fetus triventricular hydrocephalus, no encephalocele, no retinal dysplasia, no other visceral abnormalities	2	1	Johan den Dunnen
00152642	-	-	no causative LARGE mutations found	M	-	-	-	-	-	-	MDC	-	1	1	Tom Winder
00152643	-	-	-	-	-	-	-	-	-	-	LGMD	-	1	1	Tom Winder
00152644	-	-	-	F	-	United States	-	-	-	-	MDC	-	2	1	Tom Winder
00152645	-	-	-	-	-	United States	-	-	-	-	?	-	1	1	Tom Winder
00152646	-	-	-	-	-	United States	-	-	-	-	WWS	-	1	1	Tom Winder
00152647	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152648	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152649	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152650	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152651	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152652	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152653	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152654	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152655	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152656	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152657	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152658	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152659	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152660	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152661	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	?	-	1	1	Madhuri Hegde
00152689	19299310-Pat43	PubMed: Mercuri 2009	-	-	-	Italy	-	-	-	-	MDC	see paper; …	1	1	Johan den Dunnen
00207901	242	PubMed: Vadgama 2019, Journal: Vadgama 2019	242: proband diagnosed with ALS 243: unaffected MZ twin	M	-	-	-	-	-	-	ALS	-	1	1	Nirmal Vadgama
00265901	PatD1	PubMed: Cummings 2017	-	-	-	-	-	-	-	-	MD	-	2	1	Johan den Dunnen
00293102	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	114	Mohammed Faruq
00293103	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	11	Mohammed Faruq
00304901	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	1	Mohammed Faruq
00304902	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	1	Mohammed Faruq
00361607	11DG1643	PubMed: Anazi 2017	familial	M	yes	Saudi Arabia	-	-	-	-	ID	syndromic; global developmental delay, severe hydocephalus, eye involvement and high CPK	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

LARGE (like-glycosyltransferase)