All individuals with variants in gene VPS13B

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.

87 entries on 1 page. Showing entries 1 - 87.

Legend

How to query

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)	3	1	Yu Sun
00024235	-	PubMed: Gilissen 2014	-	-	-	-	-	-	-	-	-	COH1, ID	, ID without speech, autism, hypotonia, recurrent infection, sleep disturbances, delayed puberty and obesitas, short stature and microcephaly, deep set eyes, hypertelorism, large ears, large nose, short philtrum, full lips. Kyphosis, narrow hands with tapering fingers, partial cutaneous syndactyly of 2nd and 3rd toes and sandal gaps. No ophthalmologic anomalies.	2	1	Johan den Dunnen
00050518	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	microcephaly, agenesis of corpus callosum, severe neonatal hypotonia in males, high palate, metatarsus adductus, short broad feet, paroxysmal dyskinesia	2	1	Johan den Dunnen
00050555	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay, microcephaly, macrotia	1	1	Johan den Dunnen
00131879	-	-	-	-	-	Germany	-	-	-	-	-	COH1	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00150183	26539891-FamBAB5552	PubMed: Karaca 2015	-	-	-	-	-	-	-	family structure in paper	-	?	Microcephaly, mild cortical atrophy without classical Cohen syndrome findings	1	2	Johan den Dunnen
00150184	26539891-FamBAB5828	PubMed: Karaca 2015	-	-	-	-	-	-	-	family structure in paper	-	?	Intellectual disability and microcephaly without classical Cohen syndrome findings	1	1	Johan den Dunnen
00226217	Pat11A	PubMed: Parri 2010, Journal: Parri 2010	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	COH1	moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, no retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour	3	2	Johan den Dunnen
00226287	Pat1	PubMed: Katzaki 2007, PubMed: Parri 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Italy	-	-	-	-	-	COH1	intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, normal social behaviour, pet varus	2	1	Johan den Dunnen
00226288	Pat2	PubMed: Parri 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	-	-	-	-	-	COH1	severe intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, mild mitral insufficiency	2	1	Johan den Dunnen
00226289	Pat3	PubMed: Parri 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	-	-	-	-	-	COH1	mild/moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), no neutropenia, joint hyperlaxity, abnormal social behaviour, leg asymmetry	2	1	Johan den Dunnen
00226290	Pat4	PubMed: Parri 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	-	-	-	-	-	COH1	moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, intrauterine growth retardation, hip asymmetry	2	1	Johan den Dunnen
00226291	Pat5	PubMed: Parri 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Italy	-	-	-	-	-	COH1	moderate intellectual disability, microcephaly (3rd centile), typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity	1	1	Johan den Dunnen
00226292	Pat6	PubMed: Parri 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	-	-	-	-	-	COH1	mild/moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour	2	1	Johan den Dunnen
00226293	Pat7	PubMed: Parri 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	-	-	-	-	-	COH1	moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, neonatal hypotonia	2	1	Johan den Dunnen
00226294	Pat8	PubMed: Katzaki 2007, PubMed: Parri 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Italy	-	-	-	-	-	COH1	moderate intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, no joint hyperlaxity, abnormal social behaviour, syndactyly (2nd/3rd toes)	2	1	Johan den Dunnen
00226295	Pat9A	PubMed: Parri 2010	2-generation family, affected sisters, unaffected heterozygous carrier parents	F	no	Italy	-	-	-	-	-	COH1	intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, breast cancer, bilateral cataract	2	2	Johan den Dunnen
00226296	Pat9B	PubMed: Parri 2010	sister	F	no	Italy	-	-	-	-	-	COH1	intellectual disability, microcephaly, typical facial gestalt, truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour, breast cancer, bilateral cataract	2	1	Johan den Dunnen
00226297	Pat10A	PubMed: Parri 2010	2-generation family, affected brothers, unaffected heterozygous carrier parents	M	no	-	-	-	-	-	-	COH1	moderate intellectual disability, no microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, mitralic insuficiency	2	2	Johan den Dunnen
00226298	Pat10B	PubMed: Parri 2010	brother	M	no	-	-	-	-	-	-	COH1	moderate intellectual disability, no microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, retinopathy, myopia (diapers), neutropenia, joint hyperlaxity	2	1	Johan den Dunnen
00226299	Pat11B	PubMed: Parri 2010	sister	M	no	-	-	-	-	-	-	COH1	moderate intellectual disability, microcephaly, typical facial gestalt, no truncal obesity, narrow hands/feet, slender/tapering fingers, no retinopathy, myopia (diapers), neutropenia, joint hyperlaxity, abnormal social behaviour	3	1	Johan den Dunnen
00226316	Fam	PubMed: Bugiani 2008, PubMed: Parri 2010	7-generation family, 12 affected	F;M	yes	Greece	-	-	-	-	-	COH1	see paper; ...	1	12	Johan den Dunnen
00294522	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00294523	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294524	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294525	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00294526	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	26	Mohammed Faruq
00294527	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294528	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294529	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00294530	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	148	Mohammed Faruq
00294531	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294532	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	30	Mohammed Faruq
00294533	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	10	Mohammed Faruq
00294534	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00295425	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00300652	-	Huang 2020 (submitted)	GWAS study 3D normal human faces in 2,659 individuals	-	-	China	Han	-	-	-	-	?	facial morphology nose	1	1	Yin Huang
00305172	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00309513	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00317986	PKMR42	PubMed: Riazuddin 2017	-	-	yes	Pakistan	-	-	-	-	-	ID	Severe ID, speech delay, moderate hypotonia, microcephaly, ADHD, aggressive, hypotelorism	1	1	Johan den Dunnen
00325501	3723	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	syndromic retinal systrophy	2	1	Johan den Dunnen
00328322	W000277	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	3	1	LOVD
00328510	14017275	PubMed: Taylor 2017	family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	retinal dystrophy (HP:0000556), neurodevelopmental abnormality (HP:0012759), abnormal facial shape (HP:0001999)	2	1	LOVD
00328511	14019897	PubMed: Taylor 2017	no family history retinal disease	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	retinal dystrophy (HP:0000556), neurodevelopmental abnormality (HP:0012759), abnormal facial shape (HP:0001999)	2	1	LOVD
00331739	RP-1430	PubMed: Sanchez-Navarro 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	retinitis pigmentosa, intellectual disability	1	1	LOVD
00334108	645	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB9	2	1	LOVD
00334109	646	PubMed: Stone 2017	family, 2 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB9	1	2	LOVD
00334110	647	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB9	2	1	LOVD
00335998	-	PubMed: Sergouniotis 2016	analysis 486 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	2	LOVD
00358949	Case71674	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358970	Case71161	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358972	Case70559	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00361664	12DG2122	PubMed: Anazi 2017	familial	M	yes	Saudi Arabia	-	-	-	-	-	ID	syndromic; intellectual disability and dysmorphism	1	1	Johan den Dunnen
00362734	-	PubMed: Tsangaris 2011	-	-	-	Canada	-	-	-	-	-	?	see paper; ...	2	1	Johan den Dunnen
00373843	Rp83	PubMed: Zhao 2015	simplex case	-	-	Northern Ireland	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00383870	MOL0760 IV:1	PubMed: Abu Diab 2019	-	F	yes	Israel	Arabic	-	-	-	-	retinal disease	short stature, developmental delay, congenital mental retardation, microcephaly, facial dysmorphism and retinitis pigmentosa	1	1	LOVD
00383871	MOL0760 IV:4	PubMed: Abu Diab 2019	-	F	yes	Israel	Arabic	-	-	-	-	retinal disease	short stature, developmental delay, congenital mental retardation, microcephaly, facial dysmorphism and retinitis pigmentosa	1	1	LOVD
00385161	52	PubMed: Jiman 2020	-	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	HP:0000505 Visual Impairment;; HP:0000750 Delayed speech and language development; HP:0000322:Short philtrum; HP:0000448:Prominent nose; HP:0001270 motor delay; HP:0000252:Microcephaly; HP:0002421 poor head control; HP:0002019:Constipation;	2	1	LOVD
00387716	M120	PubMed: Hu 2019	family, 3 affected individuals, second cousin parents	-	yes	Iran	Persia	-	-	-	-	ID	syndromic intellectual disability, microcephaly	1	3	Johan den Dunnen
00387741	M256	PubMed: Hu 2019	family, 2 affected individuals, first cousin parents	-	yes	Iran	Persia	-	-	-	-	ID	syndromic intellectual disability, microcephaly	1	2	Johan den Dunnen
00387761	M339	PubMed: Hu 2019	family, 2 affected individuals, first cousin parents	-	yes	Iran	Persia	-	-	-	-	ID	syndromic intellectual disability, microcephaly	1	2	Johan den Dunnen
00387796	M8600571	PubMed: Hu 2019	family, 4 affected individuals, first cousin parents	-	yes	-	Arab	-	-	-	-	ID	syndromic intellectual disability, microcephaly	1	4	Johan den Dunnen
00387799	M8700007	PubMed: Hu 2019	family, 2 affected individuals, first cousin parents	-	yes	Iran	Persia	-	-	-	-	ID	syndromic intellectual disability, microcephaly	1	2	Johan den Dunnen
00388823	107	PubMed: Weisschuh 2020	Filing key number: 49, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00389311	595	PubMed: Weisschuh 2020	Filing key number: 214, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00389312	596	PubMed: Weisschuh 2020	Filing key number: 214, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00389372	656	PubMed: Weisschuh 2020	Filing key number: 234, unclassified / mixed, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389373	657	PubMed: Weisschuh 2020	Filing key number: 234, unclassified / mixed, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389632	916	PubMed: Weisschuh 2020	Filing key number: 390, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00394810	207-280	PubMed: Kim 2021	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	macula-dominant diffuse retinal dystrophy with mental retardation	2	1	LOVD
00395587	RP-1626	PubMed: Perea-Romero 2021	-	-	-	Spain	-	-	-	-	-	retinal disease	myopia, rod-cone dystrophy, global developmental delay, intellectual disability, neutropenia, short finger, kyphosis, ligamentous laxity, microcephaly, scoliosis, short stature, hypertelorism, narrow palate, narrow forehead, thick eyebrow, thick hair, thick vermilion border, toenail dysplasia	2	1	LOVD
00395606	RP-2879	PubMed: Perea-Romero 2021	-	-	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00396456	14017275	PubMed: Ellingford 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00396457	14019897	PubMed: Ellingford 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00426922	27_31	PubMed: Zhu 2022	family 27, individual 31	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00433362	Pat31	PubMed: Duerinckx 2021	family, 2 affected brothers	M	yes	Belgium	-	-	-	-	-	microcephaly	primary microcephaly, fluctuant neutropenia, truncal obesity, retinal dystrophy, joints hyperlaxity; birth OFC (SD-2), weigth (SD-2.5), length (SD-3); OFC (SD-4), weigth (SD-1), length (SD-4); no epilepsy; severe intellectual disability, no speech; MRI normal; birth OFC (SD-2), weigth (SD-2.5), length (SD-3); OFC (SD-4), weigth (SD-1), length (SD-4); no epilepsy; severe intellectual disability, no speech; MRI normal	1	2	Johan den Dunnen
00440441	PED3298.1	PubMed: Nambot 2018	-	-	-	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00440451	PED3072.1	PubMed: Nambot 2018	-	-	-	France	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00444316	Pat87	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00447329	SRP-1288	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00447568	MISC-298	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00451168	071800	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen
00451203	072031	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen
00451305	074635	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen
00460935	-	-	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Tjakko van Ham
00460936	-	-	-	-	-	Netherlands	-	-	-	-	-	?	-	1	1	Tjakko van Ham

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How to query

Global Variome shared LOVD

VPS13B (vacuolar protein sorting 13 homolog B (yeast))