Disease #04360 (FHBL1 (hypobetalipoproteinemia, familial, type 1 (FHBL1)), OMIM:615558)

Official abbreviation	FHBL1
Name	hypobetalipoproteinemia, familial, type 1 (FHBL1)
OMIM ID	615558
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	139
Phenotype entries for this disease	99
Associated with 1 gene	APOB
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-09-23 10:25:22 +02:00 (CEST)
Date last edited	2020-02-26 12:54:24 +01:00 (CET)

Individuals

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'

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139 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00054754	-	-	-	F	no	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Antoine Rimbert
00054755	-	-	-	M	no	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Antoine Rimbert
00054756	-	-	-	F	no	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Antoine Rimbert
00054757	-	-	-	M	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Antoine Rimbert
00054759	-	-	-	M	-	-	-	-	-	-	-	FHBL1	-	PCSK9	PCSK9	1	1	Antoine Rimbert
00206891	24842304-FamPatB1	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Johan den Dunnen
00206892	24842304-FamPatB2/B3	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	family, 2 affected brothers	M	-	France	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Johan den Dunnen
00206893	24842304-FamPatB4	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Johan den Dunnen
00206894	24842304-FamPatB5/B6	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sibs	M	-	France	-	-	-	-	-	FHBL1	-	APOB	APOB	2	2	Johan den Dunnen
00206895	24842304-FamPatB7	PubMed: Di Filippo 2014, Journal: Di Filippo 2014	patients from unrelated families	-	-	France	-	-	-	-	-	FHBL1	-	APOB	APOB	2	1	Johan den Dunnen
00249447	-	PubMed: Conca 2012	-	-	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	4	LOVD
00249451	-	PubMed: Yue 2002	-	-	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	8	Amanda Hooper
00249452	-	PubMed: Young 1990	-	M	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249453	-	PubMed: Young 1989	-	F	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	6	Amanda Hooper
00249454	-	PubMed: Collins 2008	-	F	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249457	-	PubMed: Groenewegen 1994	-	M	-	(Netherlands)	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249458	-	PubMed: Groenewegen 1993	-	M	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	11	Amanda Hooper
00249459	-	PubMed: Young 1993	-	F	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249460	-	PubMed: Young 1993	-	F	?	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249461	-	PubMed: Young 1993	-	M	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249462	-	PubMed: Young 1993	-	-	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	4	Amanda Hooper
00249463	-	PubMed: Srivastava 1996	-	F	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249464	-	PubMed: Ruotolo 1998	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249465	-	PubMed: Tarugi 2001	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249466	-	PubMed: Tarugi 2001	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249467	-	PubMed: Tarugi 2001	-	F	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	5	Amanda Hooper
00249468	-	PubMed: Yue 2002	-	-	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	6	Amanda Hooper
00249469	-	PubMed: Yue 2002	-	-	?	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	4	Amanda Hooper
00249470	-	PubMed: Yue 2002	-	-	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	8	Amanda Hooper
00249471	-	PubMed: Yue 2002	-	-	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249472	-	-	-	M	no	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249473	-	-	-	M	no	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	4	Amanda Hooper
00249474	-	-	-	M	no	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249475	-	PubMed: Krul 1992	-	M	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	4	Amanda Hooper
00249476	-	PubMed: Farese 1992	-	M	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	10	Amanda Hooper
00249477	-	PubMed: Burnett 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	10	Amanda Hooper
00249478	-	PubMed: McCormick 1992	-	-	-	New Zealand	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249479	-	PubMed: Fouchier 2005	-	M	-	Netherlands	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249480	-	PubMed: Fouchier 2005	2 families (5 patients)	-	-	Netherlands	-	-	-	-	-	FHBL1	-	APOB	APOB	1	5	Amanda Hooper
00249481	-	PubMed: Fouchier 2005	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249482	-	PubMed: Fouchier 2005	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	7	Amanda Hooper
00249483	-	PubMed: Fouchier 2005	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	5	Amanda Hooper
00249484	-	PubMed: Fouchier 2005	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	23	Amanda Hooper
00249485	-	PubMed: Lancellotti 2005	-	F	-	(Italy)	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249486	-	PubMed: Edgar 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249487	-	PubMed: Di Leo 2009	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	4	Amanda Hooper
00249488	-	PubMed: Di Leo 2007	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249489	-	PubMed: Di Leo 2007	-	F	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249490	-	PubMed: Homer 2007	-	M	-	New Zealand	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249491	-	PubMed: Tarugi 2000	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	8	Amanda Hooper
00249492	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249493	-	PubMed: Di Leo 2007	-	F	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249494	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249495	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249496	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249497	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249498	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249499	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249500	-	PubMed: Tarugi 2007	6 families (6 patients)	-	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	6	Amanda Hooper
00249501	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249502	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249503	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249504	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249505	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249506	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249507	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249508	-	PubMed: Tarugi 2007	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249509	-	PubMed: Hooper 2008	-	M	yes	Turkey	-	-	-	-	-	FHBL1	-	APOB	APOB	1	5	Amanda Hooper
00249518	-	PubMed: Katsuda 2009	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249519	-	PubMed: Bonnefont-Rousselot 2009	-	M	-	France	-	-	-	-	-	FHBL1	cirrhosis	APOB	APOB	1	3	Amanda Hooper
00249520	-	PubMed: Di Leo 2009	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	6	Amanda Hooper
00249521	-	PubMed: Wagner 1991	-	M	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	10	Amanda Hooper
00249522	-	PubMed: Zhong 2010	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249523	-	PubMed: Zhong 2010	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249524	-	PubMed: Zhong 2010	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249525	-	PubMed: Zhong 2010	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249526	-	PubMed: Welty 1991	-	M	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	7	Amanda Hooper
00249527	-	PubMed: Florkowski 2010	-	M	-	New Zealand	-	-	-	-	-	FHBL1	fatty liver	APOB	APOB	1	1	Amanda Hooper
00249528	-	-	-	M	no	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	4	Amanda Hooper
00249530	-	PubMed: Fouchier 2005	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	9	LOVD
00249532	-	PubMed: Di Leo 2007	-	M	-	Italy	-	-	-	-	-	FHBL1	-	APOB	APOB	1	2	Amanda Hooper
00249533	-	PubMed: Turk 2012	-	M	-	Turkey	-	-	-	-	-	FHBL1	hepatic steatosis	APOB	APOB	1	1	LOVD
00249534	-	PubMed: Talmud 1992	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	FHBL1	atypical retinitis pigmentosa	APOB	APOB	1	4	LOVD
00249535	-	PubMed: Welty 1995	-	M	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249536	-	PubMed: Pulai 1998	-	M	-	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	Amanda Hooper
00249537	-	PubMed: Tarugi 1996	-	M	-	Italy	-	-	-	-	-	FHBL1	fatty liver	APOB	APOB	1	2	LOVD
00249538	-	PubMed: Pulai 1998	-	F	no	United States	-	-	-	-	-	FHBL1	-	APOB	APOB	1	11	LOVD
00249539	-	PubMed: MartÃn-Morales 2013	-	M	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	3	LOVD
00249540	-	PubMed: MartÃn-Morales 2013	-	F	-	-	-	-	-	-	-	FHBL1	Down syndrome, NAFLD	APOB	APOB	1	2	LOVD
00249541	-	PubMed: MartÃn-Morales 2013	-	M	-	-	-	-	-	-	-	FHBL1	steatorrhoea, fatty liver	APOB	APOB	1	3	LOVD
00249542	-	PubMed: Magnolo 2016	-	-	-	(Italy)	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	LOVD
00249544	-	PubMed: Whitfield 2003	homozygous FHBL	F	-	South Africa	-	-	-	-	-	FHBL1	-	APOB	APOB	1	5	Amanda Hooper
00249545	-	-	-	F	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Sigrid Fouchier
00249546	-	PubMed: Welty 1995	-	-	-	-	-	-	-	-	-	FHBL1	compound heterozygote	APOB	APOB	2	4	Amanda Hooper
00249548	-	PubMed: Huang 1991	-	M	no	United States	-	18y	-	-	-	FHBL1	compound heterozygote	APOB	APOB	2	2	Amanda Hooper
00249549	-	-	-	F	-	South Africa	Xhosa	-	-	-	-	FHBL1	-	APOB	APOB	2	1	Amanda Hooper
00249550	-	PubMed: Hegele 2002	homozygous FHBL	F	yes	Canada	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper
00249551	-	-	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Sigrid Fouchier
00249552	-	PubMed: Gangloff 2011	-	-	yes	-	French Canadian	-	-	-	-	FHBL1	Homozygous FHBL	APOB	APOB	1	1	Amanda Hooper
00249553	-	-	-	-	-	-	-	-	-	-	-	FHBL1	-	APOB	APOB	1	1	Amanda Hooper

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Global Variome shared LOVD

CDKN1C (cyclin-dependent kinase inhibitor 1C (p57,...))