All individuals with variants in gene ISPD

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.

131 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	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)	2	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
00004056	-	-	5-generation family, 3 affecteds, 6 unaffected carriers	F	yes	-	-	-	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS) / muscle-eye-brain disease (MEB); neonatal death; cobblestone lissencephaly; hydrocephalus; hypoplasia; encephalocele; cerebellar abnormalities; brainstem kinking; right microphthalmia; bilateral cloudy cornea; left shallows; muscular dystrophy, hypotonia	2	7	Johan den Dunnen
00004057	-	-	5-generation family, 3 affecteds, 6 unaffected carriers	F	yes	-	-	13m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS) / muscle-eye-brain disease (MEB); cobblestone lissencephaly; hydrocephalus; no encephalocele; cerebellar abnormalities; no microphthalmia; bilateral congenital cataract; Buphthalmos, Peter's anomaly; muscular dystrophy, hypotonia	2	1	Johan den Dunnen
00004058	-	-	5-generation family, 3 affecteds, 6 unaffected carriers	F	yes	-	-	9m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS) / muscle-eye-brain disease (MEB); cobblestone lissencephaly; hydrocephalus; no encephalocele; cerebellar abnormalities; brainstem kinking; right congenital cataract; left persistent hyperplastic primary vitreous; muscular dystrophy, hypotonia	2	1	Johan den Dunnen
00004059	-	-	2-generation family, 2 affecteds, unaffected carrier parents	M	yes	-	-	9d	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); severe hydrocephalus; hypoplasia; no encephalocele; no cerebellar abnormalities; left microphthalmia, thin retina; no congenital cataract; glaucoma, corneal oedema; muscular dystrophy, hypotonia	2	3	Johan den Dunnen
00004060	-	-	2-generation family, 1 affected, unaffected carrier parents	M	yes	-	-	4m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; partial agenesis; encephalocele; cerebellar abnormalities; brainstem kinking; microphthalmia, no retinal abnormalities; congenital cataract; persistent hyperplastic primary vitreous;	2	2	Johan den Dunnen
00004061	-	-	2-generation family, 1 affected, unaffected carrier parents	M	yes	-	-	14m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; left microphthalmia, bilateral retinal detachment, choroidal abnormalities; left congenital cataract; bilateral glaucoma; muscular dystrophy, hypotonia	2	2	Johan den Dunnen
00004062	-	-	2-generation family, 1 affected, unaffected carrier parents	F	yes	-	-	0d	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); fetal death (23+5w gestational age); cobblestone lissencephaly; hydrocephalus; agenesis; no encephalocele; cerebellar abnormalities; brainstem kinking; ;	2	2	Johan den Dunnen
00004063	-	-	2-generation family, 1 affected, 3 unaffected carriers	F	yes	-	-	2y06m	-	-	-	MDDGA7	muscle-eye-brain disease (MEB); cobblestone lissencephaly; hydrocephalus; no encephalocele; cerebellar abnormalities; no microphthalmia, retinal detachment; bilateral congenital cataract; synechiae; muscular dystrophy, hypotonia	2	3	Johan den Dunnen
00004064	-	-	2-generation family, 2 affecteds (F, M) , unaffected carrier parents	?	yes	-	-	2y	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; bilateral microphthalmia, hyper-plastic vitreous, optic atrophy; bilateral congenital cataract; shallow anterior chamber abnormalities; muscular dystrophy, hypotonia	2	3	Johan den Dunnen
00004065	-	-	2-generation family, 1 affected, unaffected carrier parents	F	no	-	-	2y	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); cobblestone lissencephaly; hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; brainstem kinking; no microphthalmia, retinal dysgenesis; ; muscular dystrophy, hypotonia	2	2	Johan den Dunnen
00004066	-	-	2-generation family, 1 affected, unaffected carrier parents	M	no	-	-	-	-	-	-	MDDGA7	muscle-eye-brain disease (MEB); death >5.5y; pachygyria and polymicrogyria; no hydrocephalus; hypoplasia; no encephalocele; cerebellar abnormalities; no brainstem kinking; right microphthalmia, retinal detachment, optic atrophy; no congenital cataract; glaucoma; muscular dystrophy, hypotonia	2	2	Johan den Dunnen
00004067	-	-	-	?	?	-	-	15m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); MRI hydrocephalus, cobblestone lissencephaly, beaded subcortical heterotopia, thin corpus callosum, increased white matter signal, brainstem hypoplasia, cerebellar hypoplasia; bilateral microphthalmia, cataracts, arrested retinal development	2	1	Johan den Dunnen
00004068	-	-	-	?	?	-	-	16m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); MRI hydrocephalus with marked thinning cortex, cobblestone lissencephaly, brain stem atrophy; bilateral microphthalmia with cataract, persistent hyperplastic primary vitreous, retinal detachment	2	1	Johan den Dunnen
00004069	-	-	-	?	?	-	-	24m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); massive hydrocephalus, cerebellar hypoplasia, cobblestone lissencephaly; bilateral optic nerve hypoplasia, loss of macular pigment	2	1	Johan den Dunnen
00004070	-	-	case1980 Miami Brain and Tissue Bank for Developmental Disorders	?	?	-	-	-	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS);	2	1	Johan den Dunnen
00004071	-	-	case1001 Miami Brain and Tissue Bank for Developmental Disorders	?	?	-	-	6m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); MRI hydrocephalus, agyria, cobblestone lissencephaly, beaded subcortical heterotopia, thin corpus callosum, brainstem hypoplasia, cerebellar hypoplasia; unilateral microphthalmia with cataract, optic nerve hypoplasia	2	1	Johan den Dunnen
00004072	-	PubMed: Chitayat 1995, PubMed: Vajsar 2000	-	?	?	Canada	-	3m	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); MRI hydrocephalus, agyria/pachygyria, cobblestone lissencephaly, cerebellar hypoplasia; Petersí anomaly, retinal detachment, cornea dysplasia	2	1	Johan den Dunnen
00004073	-	-	-	?	?	-	-	-	-	-	-	MDDGA7	Walker-Warburg syndrome (WWS); MRI cobblestone lissencephaly with partial pachygyria, hydrocephalus, partial agenesis of corpus callosum, brainstem hypoplasia, cerebellar hypoplasia; unilateral congenital cataract, focal corneal	2	1	Johan den Dunnen
00004074	-	-	-	?	?	United States	-	-	-	-	-	MDDGA7	dystroglycanopathy; congenital hydrocephalus	2	1	Tom Winder
00004075	-	PubMed: Vuillaumier-Barrot 2012	2-generation family, 3 affected fetuses	?	no	France	-	-	-	-	-	MDDGA7	cobblestone lissencephaly;	2	3	Johan den Dunnen
00004076	-	-	2-generation family, unaffected carrier parent	?	no	France	-	-	-	-	-	Healthy/Control	-;	1	3	Johan den Dunnen
00004077	-	-	2-generation family, unaffected carrier parent	?	no	France	-	-	-	-	-	Healthy/Control	-;	1	3	Johan den Dunnen
00004078	-	PubMed: Vuillaumier-Barrot 2012	2-generation family, 2 affected fetuses	?	yes	France	-	-	-	-	-	MDDGA7	cobblestone lissencephaly;	2	2	Johan den Dunnen
00004079	-	-	2-generation family, unaffected carrier parents	?	yes	France	-	-	-	-	-	Healthy/Control	-;	1	2	Johan den Dunnen
00004080	-	PubMed: Vuillaumier-Barrot 2012	2-generation family, 1 affected fetus	?	no	France	-	-	-	-	-	MDDGA7	cobblestone lissencephaly;	2	1	Johan den Dunnen
00004081	-	-	2-generation family, unaffected carrier parent	?	no	France	-	-	-	-	-	Healthy/Control	-;	1	1	Johan den Dunnen
00004082	-	-	2-generation family, unaffected carrier parent	?	no	France	-	-	-	-	-	Healthy/Control	-;	1	1	Johan den Dunnen
00004083	-	PubMed: Vuillaumier-Barrot 2012	2-generation family, 1 affected fetus	?	no	France	-	-	-	-	-	MDDGA7	cobblestone lissencephaly;	2	1	Johan den Dunnen
00004084	-	-	2-generation family, unaffected carrier parent	?	no	France	-	-	-	-	-	Healthy/Control	-;	1	1	Johan den Dunnen
00004085	-	PubMed: Vuillaumier-Barrot 2012	2-generation family, 1 affected fetus	?	no	France	-	-	-	-	-	MDDGA7	cobblestone lissencephaly;	2	1	Johan den Dunnen
00004086	-	-	2-generation family, unaffected carrier parents	?	no	France	-	-	-	-	-	Healthy/Control	-;	1	1	Johan den Dunnen
00004087	-	-	2-generation family, unaffected carrier parents	?	no	France	-	-	-	-	-	Healthy/Control	-;	1	1	Johan den Dunnen
00004088	-	-	-	F	?	United States	-	-	-	-	-	MDDGA7	Walker-Warburg syndrome;	2	1	Tom Winder
00004089	-	-	-	M	?	United States	Hispanic	-	-	-	-	MDDGA7	Walker-Warburg syndrome;	2	1	Tom Winder
00219565	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219580	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219618	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219623	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219625	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219629	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219645	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219698	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219786	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219824	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219825	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219847	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219915	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219943	30564623-Pat	PubMed: Nallamilli 2018	-	M	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219958	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219961	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00220016	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00220024	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00220052	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220063	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220202	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220221	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00220279	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220305	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220424	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220433	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220522	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220566	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220576	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220620	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220721	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220827	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220849	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220891	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220901	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00220954	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221020	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221048	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221135	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221164	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221281	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221429	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221432	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221469	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221514	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221617	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00221625	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221647	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00221655	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221828	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221831	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221861	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221891	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221920	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00221999	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222029	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00222103	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222127	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222187	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222344	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222376	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222454	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222508	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00265239	-	-	-	-	-	China	-	-	-	-	-	-	-	2	1	Danyu Song

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Global Variome shared LOVD

ISPD (isoprenoid synthase domain containing)