All individuals with variants in gene MTTP

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.

63 entries on 1 page. Showing entries 1 - 63.

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
00000054	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Global Variome, with Curator vacancy
00205860	patient	PubMed: Di Filippo 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	France	-	-	-	-	-	ABL	see paper; ..., diarrhea, failure to thrive	3	1	Mathilde Di Filippo
00206839	21394827-FamPatAM	PubMed: Pons 2011	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	no	France	white	-	-	-	-	ABL	see paper; ...	2	2	Johan den Dunnen
00206840	21394827-FamPatPM	PubMed: Pons 2011	sister	F	no	France	white	-	-	-	-	ABL	see paper; ...	2	1	Johan den Dunnen
00206841	10946006-FamPat	PubMed: Ohashi 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206842	10679949-FamPat	PubMed: Wang 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206843	7782284-FamPat	PubMed: Ricci 1995	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206844	16721486-FamPat	PubMed: Rubin 2006	-	-	-	-	-	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00206845	16143868-FamPat	PubMed: Sakamoto 2006	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206846	17275380-FamPat	PubMed: Benayoun 2007	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206847	10679949-FamPat	PubMed: Wang 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206848	21502686-FamPat	PubMed: Sani 2011	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206849	8939939-FamPat	PubMed: Rehberg 1996	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206850	10679949-FamPat	PubMed: Wang 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206851	15910857-FamPat	PubMed: Di Leo 2005	-	-	-	-	-	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00206852	10679949-FamPat	PubMed: Wang 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206853	15910857-FamPat	PubMed: Di Leo 2005	-	-	-	-	-	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00206854	8361539-FamPat	PubMed: Sharp 1993	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206855	20592474-FamPat	PubMed: Zeissig 2010	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206856	19066957-FamPat	PubMed: Chardon 2009	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206857	19056372-FamPat	PubMed: Najah 2009	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206858	9598834-FamPat	PubMed: Karpe 1998	-	-	-	-	-	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00206859	17854051-FamPat	PubMed: Rubin 2008	-	-	-	-	-	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00206860	16143868-FamPat	PubMed: Sakamoto 2006	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206861	17132287-FamPat	PubMed: Al-Mahdili 2006	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206862	17275380-FamPat	PubMed: Benayoun 2007	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206863	10679949-FamPat	PubMed: Wang 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206864	8533758-FamPat	PubMed: Narcisi 1995	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206865	8111381-FamPat	PubMed: Shoulders 1993	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206866	8533758-FamPat	PubMed: Narcisi 1995	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206867	10946006-FamPat	PubMed: Ohashi 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206868	20592474-FamPat	PubMed: Zeissig 2010	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206869	21394827-FamPat	PubMed: Pons 2011	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206870	19056372-FamPat	PubMed: Najah 2009	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206871	21394827-FamPat	PubMed: Pons 2011	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206872	10446076-FamPat	PubMed: Yang 1999	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206873	15910857-FamPat	PubMed: Di Leo 2005	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206874	8533758-FamPat	PubMed: Narcisi 1995	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206875	10679949-FamPat	PubMed: Wang 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206876	10946006-FamPat	PubMed: Ohashi 2000	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206877	17570373-FamPat	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206878	8533758-FamPat	PubMed: Narcisi 1995	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206879	19066957-FamPat	PubMed: Chardon 2009	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206880	8361539-FamPat	PubMed: Sharp 1993	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206881	8533758-FamPat	PubMed: Narcisi 1995	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206882	8533758-FamPat	PubMed: Narcisi 1995	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206883	9467817-FamPat	PubMed: Heath 1997	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Johan den Dunnen
00206884	24842304-FamPatA1	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	ABL	-	1	1	Johan den Dunnen
00206885	24842304-FamPatA2	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	ABL	-	1	1	Johan den Dunnen
00206886	24842304-FamPatA4	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	ABL	-	1	1	Johan den Dunnen
00206887	24842304-FamPatA5	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	ABL	-	1	1	Johan den Dunnen
00206888	24842304-FamPatA6	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	yes	France	-	-	-	-	-	ABL	-	2	1	Johan den Dunnen
00206889	24842304-FamPatA7	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	ABL	-	2	1	Johan den Dunnen
00206890	24842304-FamPatA3	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	ABL	-	1	1	Johan den Dunnen
00293497	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	59	Mohammed Faruq
00293498	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	143	Mohammed Faruq
00293499	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	17	Mohammed Faruq
00304965	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304966	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00374406	S-329	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Retinitis pigmentosa, progressive cerebellar and sensory ataxia, tremors and malabsorption with recurrent diarrhea. Peripheral smear showed acanthocytes.	1	1	Johan den Dunnen
00375435	RP#030	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00386900	OGI623_001282	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00426983	-	PubMed: Reiner 2022	carrier screening 73,755 controls	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

MTTP (microsomal triglyceride transfer protein)