All individuals with variants in gene ALMS1

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.

147 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
00034519	-	PubMed: Wang 2011, Journal: Wang 2011	4-generation family, 6 affecteds (3F, 3M), family, unaffected heterozygous carrier parents/sibs	-	yes	Saudi Arabia	-	-	-	-	-	LCA	see paper; nystagmus, cataracts, fundus defects, other retinal defects; no other syndromic phenotypes (no hearing loss, no obesity)	1	6	Xia Wang
00046458	FamPatIII4	PubMed: Lazar 2015; Journal: Lazar 2015	3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/sister	F	-	Israel	Arab, Muslim	-	-	-	-	CORD, LGMDR2;LGMD2B	muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), visual loss (HP:0000572), photophobia (HP:0000613), pendular nystagmus (HP:0012043), rod-cone dystrophy (HP:0000510)	1	2	Csilla Lazar
00050677	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected and affected2nd degree relatives	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	truncal obesity, joint hypermobility, obstructive sleep apnea, central sleep apnea, delayed speech and language development, hypernasal speech	2	1	Johan den Dunnen
00073166	26077327-PatIII4	PubMed: Lazar 2015, Journal: Lazar 2015	brother	M	yes	Palestine	-	-	-	-	-	ALMS, LGMDR2;LGMD2B	muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), Visual loss (HP:0000572), Photophobia (HP:0000613), Pendular nystagmus (HP:0012043),	1	1	Pieter Klap
00081023	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	ALMS	Alstrom syndrome (OMIM:203800)	1	1	Daniel Trujillano
00100098	PKRD176;61176	PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	retinal disease	-	1	1	James Hejtmancik
00154952	-	-	-	?	-	(Germany)	-	-	-	-	-	?	Global developmental delay (HP:0001263); Autistic behavior (HP:0000729); Cardiomyopathy (HP:0001638)	2	1	IMGAG
00155380	-	Sharon, submitted	-	F	yes	Israel	Arab-Muslim	-	-	-	-	LCA	-	1	2	Dror Sharon
00205367	-	-	-	M	no	Spain	white	-	-	Yes	-	-	-	1	1	Angel Campos-Barros
00207481	-	-	-	M	-	-	-	-	-	-	-	LCA	-	2	1	Marta de Castro-Miró
00207616	-	-	-	F	-	-	-	-	-	-	-	MCKD2	-	1	4	Marta de Castro-Miró
00288207	Pat17	PubMed: Lee 2019	-	-	-	United States	-	-	-	-	-	?	abnormality of the tympanic membrane, acanthosis nigricans, accelerated skeletal maturation, astigmatism, blepharophimosis, broad foot, chronic otitis media, developmental delay, dysmorphic features, hepatic steatosis, hypermetropia, increased body weight, long palm, macrocephaly, myopia, nystagmus, photophobia, polyphagia,premature adrenarche, round face, short toe, sleep apnea, sleep disturbance, sparse pubic hair, visual impairment	1	1	Johan den Dunnen
00292823	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	17	Mohammed Faruq
00292824	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00292825	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	100	Mohammed Faruq
00292826	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	41	Mohammed Faruq
00292827	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292828	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00292829	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00292830	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292831	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	137	Mohammed Faruq
00295303	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00304834	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304835	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00308473	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308474	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308945	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308946	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308947	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308948	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00315500	SUDS066	PubMed: Neubauer 2021	-	F	-	Switzerland	Europe	57y	-	-	-	SUD	SUD	1	1	Cordula Haas
00324526	patient	PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017	2-generation family, 1 affected, unaffected parents	M	no	Japan	-	>20y	-	-	-	COD	see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)	1	1	Najlae Akhiyate
00325425	1577	PubMed: Zenteno 2020	-	-	-	Mexico	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00328291	W000162	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328848	JU#1085	PubMed: Katagiri 2017	-	M	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00331729	RP-1232	PubMed: Sanchez-Navarro 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	retinitis pigmentosa, hearing loss, obesity, diabetes, NPHP, hypogonadism, hypothyroidism, hyperinsulinemia, acantosis nigricans	1	1	LOVD
00331730	RP-2186	PubMed: Sanchez-Navarro 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	early retinal dystrophy, overweight, dilated cardiomyopathy, diabetes	2	1	LOVD
00331731	RP-2177	PubMed: Sanchez-Navarro 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	cone-rod dystrophy, hearing loss, dilated cardiomyopathy	2	1	LOVD
00332287	Fam32PatFBP_170	PubMed: Porto 2017	proband	-	-	Brazil	-	-	-	-	-	retinal disease	-	2	1	LOVD
00333360	Pat14	PubMed: Costa 2017	-	M	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358808	AR400-03	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358830	176610	-	-	F	-	Germany	-	-	-	-	-	ALMS	(+) Renal insufficiency,(+) Hearing impairment,(+) Depressivity,(+) Hepatic steatosis,(+) Obesity,(+) Dilated cardiomyopathy,(+) Type II diabetes mellitus,(+) Retinitis / Sister cardiomyopathy at 23 yrs also RP, hearing loss, kidney and liver problems.	2	1	Andreas Laner
00358917	Fam29	PubMed: Wang 2016	family, 1 affected, unaffected heterozygous carrier parents	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00361833	Pat47	PubMed: Bahena 2021	-	M	yes	Iran	-	-	-	-	-	ALMS	-	1	2	Barbara Vona
00361835	Pat48	PubMed: Bahena 2021	-	F	no	Iran	-	-	-	-	-	ALMS	-	1	1	Barbara Vona
00361837	Pat49	PubMed: Bahena 2021	-	M	yes	Iran	-	-	-	-	-	ALMS	-	1	1	Barbara Vona
00362081	QT148	PubMed: Xu 2016, PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00362082	QT230	PubMed: Xu 2016, PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00362083	QT395	PubMed: Xu 2016, PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00362084	QT989	PubMed: Xu 2016, PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00362085	QT1249	PubMed: Xu 2016, PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00362921	CHRO234	PubMed: Weisschuh 2016	family	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363611	10DG0142	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363629	10DG1288	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	1	1	LOVD
00363633	10DG1583	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	1	1	LOVD
00363664	11DG1978	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363704	12DG1296	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	1	1	LOVD
00372499	497	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372501	123	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372502	162	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372505	128	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372506	165	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372507	695	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372509	126	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372666	RP016	PubMed: Xu 2014	family	F	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372678	RP367	PubMed: Xu 2014	patient	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372689	RP109	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372690	RP190	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372707	RP160	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372725	RP308	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00373497	RH10-PatII1	PubMed: Liu 2015	-	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00373509	RH11	PubMed: Liu 2015	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373883	OGI-322-765	PubMed: Consugar 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00375411	RP#002	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375421	RP#013	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375425	RP#019	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375435	RP#030	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00379810	2016101713	PubMed: Wang 2018	-	F	?	China	Han Chinese	-	-	-	-	retinal disease	patient did not show characteristic Alstrom syndromic features such as obesity, hearing loss, diabetes mellitus, and learning difficulties.	2	1	LOVD
00380123	09DG00838	PubMed: Patel 2018	-	-	likely	Oman	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380127	10DG0115	PubMed: Patel 2018	-	-	yes	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380135	12DG0838	PubMed: Patel 2018	-	-	yes	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381236	-	PubMed: Wang-2013	patient carry novel LOF mutation in other retinal disease genes	-	no	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00381238	-	PubMed: Wang-2013	patient carry homozygous novel missense mutation in other retinal disease genes.Alström syndrome	-	no	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00382480	342	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383152	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly	1	1	LOVD
00383153	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, learning disability	1	1	LOVD
00383408	-	PubMed: Khan 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384255	13196	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384261	13263	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384264	13286	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384275	13360	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384305	13559	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384334	13738	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384990	10131	PubMed: Xu 2020	-	?	no	China	-	-	-	-	-	retinal disease	photophobia, nystagmus, best corrected visual acuity right/left eye: 0.02/0.04	2	1	LOVD
00384991	10159	PubMed: Xu 2020	-	?	no	China	-	-	-	-	-	retinal disease	photophobia, nystagmus, best corrected visual acuity right/left eye: NA	2	1	LOVD
00385078	67280	PubMed: Xu 2020	-	?	no	China	-	-	-	-	-	retinal disease	photophobia, no nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.25/0.25	2	1	LOVD
00385082	67340	PubMed: Xu 2020	-	?	no	China	-	-	-	-	-	retinal disease	photophobia, nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: LP/LP	2	1	LOVD
00385227	-	PubMed: Redin-2012	-	-	-	Turkey	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385228	-	PubMed: Redin-2012	-	-	-	Morocco	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385231	-	PubMed: Redin-2012	-	-	-	-	Melanesian	-	-	-	-	retinal disease	-	1	1	LOVD

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Global Variome shared LOVD

ALMS1 (Alstrom syndrome 1)