All individuals with variants in gene APP

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.

100 entries on 1 page. Showing entries 1 - 100.

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
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00024121	-	submitted	-	M	?	France	Africa, Subsaharan	-	-	-	-	?	probable cerebral amyloid angiopathy (uncharacterized, no neuropathological material available)	1	1	Gael Nicolas
00024122	-	Journal: Masao 2012	large family, 9 affecteds	M	no	(Japan)	-	>53y	-	-	-	AD	age at onset 47y, mini-mental score 20/3, (RCPM) score 30/36, generalized cerebral atrophy, myoclonus and pyramidal signs	1	9	Silvia García
00057182	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	2	Zafar Iqbal
00057183	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057184	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057185	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057186	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057187	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057188	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057189	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057190	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057191	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	5	Zafar Iqbal
00057192	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057193	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	3	Zafar Iqbal
00057194	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00057195	-	-	-	-	-	Norway	-	-	-	-	-	PD	-	1	1	Zafar Iqbal
00148656	-	PubMed: Eckman CB 1997	-	-	-	-	-	-	-	-	-	AD	-	1	2	Marc Cruts
00148657	-	PubMed: Mullan M 1992	-	-	-	Sweden	white	-	-	-	-	AD	-	2	1	Marc Cruts
00148664	-	PubMed: Hendriks L 1992 PubMed: Roks G 2000 PubMed: Kumar-Singh S 2002 PubMed: Cras P 1998	-	-	-	Netherlands	white	53y04m	-	-	-	?, AD	-	1	11	Marc Cruts
00148665	-	PubMed: Chartier-Harlin MC 1991 PubMed: Fidani L 1992	-	-	-	-	-	-	-	-	-	AD	-	1	10	Marc Cruts
00148666	-	PubMed: Goate A 1991 PubMed: Fidani L 1992 PubMed: Hardy J 1991	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	AD	-	1	1	Marc Cruts
00148667	-	PubMed: Goate A 1991 PubMed: Hardy J 1991	-	-	-	-	white	-	-	-	-	AD	-	1	1	Marc Cruts
00148668	-	PubMed: Naruse S 1991	-	-	-	Japan	Asian	-	-	-	-	AD	-	1	1	Marc Cruts
00148669	-	PubMed: Naruse S 1991	-	-	-	Japan	Asian	-	-	-	-	AD	-	1	1	Marc Cruts
00148670	-	PubMed: Yoshioka K 1991	-	-	-	Japan	Asian	-	-	-	-	AD	-	1	1	Marc Cruts
00148671	-	PubMed: Fidani L 1992	-	-	-	-	-	-	-	-	-	AD	-	1	1	Marc Cruts
00148672	-	PubMed: Hardy J 1991	-	-	-	France	white	-	-	-	-	AD	-	1	2	Marc Cruts
00148673	-	PubMed: Campion D 1996 PubMed: Campion D 1999	-	-	-	France	white	61y07m	-	-	-	AD	-	1	5	Marc Cruts
00148674	-	PubMed: Campion D 1996 PubMed: Campion D 1999	-	-	-	France	white	54y06m	-	-	-	AD	-	1	5	Marc Cruts
00148675	-	PubMed: Campion D 1996	-	-	-	France	white	57y06m	-	-	-	AD	-	1	9	Marc Cruts
00148676	-	PubMed: Matsumura Y 1996	-	-	-	Japan	Asian	72y	-	-	-	AD	-	1	3	Marc Cruts
00148677	-	PubMed: Brooks WS 1995	-	-	-	Australia	white (Welsh Ancestry)	-	-	-	-	AD	-	1	3	Marc Cruts
00148678	-	PubMed: Sorbi S 1993	-	-	-	Italy	white	66y04m	-	-	-	AD	-	1	6	Marc Cruts
00148679	-	PubMed: Sorbi S 1993	-	-	-	Italy	white	61y	-	-	-	AD	-	1	6	Marc Cruts
00148680	-	PubMed: Sorbi S 1995	-	-	-	-	-	-	-	-	-	AD	-	1	1	Marc Cruts
00148681	-	PubMed: Yoshizawa T 1993	-	-	-	Japan	Asian	-	-	-	-	AD	-	1	1	Marc Cruts
00148682	-	PubMed: Murrell J 1991	-	-	-	-	-	50y	-	-	-	AD	-	1	4	Marc Cruts
00148683	-	PubMed: Kwok JBJ 1998 PubMed: Kwok JB 2000	-	-	-	Australia	white	-	-	-	-	AD	-	1	4	Marc Cruts
00148691	-	PubMed: Ancolio K 1999 PubMed: Campion D 1999	-	-	-	Italy	white	-	-	-	-	AD	-	1	4	Marc Cruts
00148704	-	PubMed: Finckh U 2000	-	-	-	Germany	white	-	-	-	-	AD	-	1	4	Marc Cruts
00148705	-	PubMed: Finckh U 2000	-	-	-	Germany	white	-	-	-	-	AD	-	1	1	Marc Cruts
00148706	-	PubMed: Finckh U 2000	-	-	-	Thailand	-	-	-	-	-	AD	-	1	1	Marc Cruts
00148724	-	PubMed: Campion D 1999	-	-	-	France	white	-	-	-	-	AD	-	1	9	Marc Cruts
00148725	-	PubMed: Campion D 1999	-	-	-	France	white	-	-	-	-	AD	-	1	4	Marc Cruts
00148737	-	PubMed: Murrell JR 2000	-	-	-	-	-	49y06m	-	-	-	AD	-	1	5	Marc Cruts
00148749	-	PubMed: Nilsberth C 2000 PubMed: Nilsberth C 2001	-	-	-	Sweden	white	-	-	-	-	AD	-	1	11	Marc Cruts
00148750	-	PubMed: De Jonghe C 2000 PubMed: Kumar-Singh S 2000	-	-	-	Austria	white	45y	-	-	-	AD	-	1	3	Marc Cruts
00148753	-	PubMed: Kamino K 1992	-	-	-	-	-	-	-	-	-	AD	-	1	5	Marc Cruts
00148760	-	PubMed: Grabowski TJ 2001	-	-	-	United States	white (German Ancestry)	68y11m	-	-	-	AD, CAA	-	1	10	Marc Cruts
00148829	-	PubMed: Pasalar P 2002	-	-	-	Iran	-	-	-	-	-	AD	-	1	1	Marc Cruts
00148849	-	PubMed: Terreni L 2002	-	-	-	Italy	white	43y	-	-	-	AD	-	1	1	Marc Cruts
00148850	-	PubMed: Cruts M 2002 PubMed: De Jonghe C 2001	-	-	-	Germany	white	-	-	-	-	AD	-	1	4	Marc Cruts
00148870	-	PubMed: Janssen JC 2002 PubMed: Janssen JC 2003	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	AD	-	1	1	Marc Cruts
00148871	-	PubMed: Janssen JC 2002 PubMed: Janssen JC 2003	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	AD	-	1	5	Marc Cruts
00148872	-	PubMed: Janssen JC 2002 PubMed: Janssen JC 2003	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	AD	-	1	1	Marc Cruts
00148875	-	PubMed: Levy E 1990 PubMed: Van Broeckhoven C 1990 PubMed: Fernandez-Madrid I 1991	-	-	-	Netherlands	white	48y	-	-	-	Cerebral amyloid angiopathy, APP-related	-	1	1	Marc Cruts
00148876	-	PubMed: Levy E 1990 PubMed: Van Broeckhoven C 1990	-	-	-	Netherlands	white	67y	-	-	-	Cerebral amyloid angiopathy, APP-related	-	1	1	Marc Cruts
00148877	-	PubMed: Levy E 1990	-	-	-	Netherlands	white	-	-	-	-	Cerebral amyloid angiopathy, APP-related	-	1	1	Marc Cruts
00148878	-	PubMed: Levy E 1990	-	-	-	Netherlands	white	-	-	-	-	Cerebral amyloid angiopathy, APP-related	-	1	1	Marc Cruts
00149002	-	-	-	-	-	Poland	white	-	-	-	-	AD	-	1	2	Marc Cruts
00149003	-	-	-	-	-	Poland	white	-	-	-	-	AD	-	1	1	Marc Cruts
00149017	-	-	Not segregating with disease. Detected in 1 patient but not in 1 affected sibling	-	-	United Kingdom (Great Britain)	white	-	-	-	-	AD	-	1	2	Marc Cruts
00149018	-	-	-	-	-	Japan	Asian	69y	-	-	-	AD	-	1	3	Marc Cruts
00149021	-	-	-	-	-	Italy	white	67y10m	-	-	-	AD, CAA	-	1	5	Marc Cruts
00149022	-	-	-	-	-	-	-	56y	-	-	-	AD	-	1	1	Marc Cruts
00149024	-	-	-	-	-	-	-	60y07m	-	-	-	?, AD	-	1	4	Marc Cruts
00149025	-	-	-	-	-	Spain	white	-	-	-	-	?, AD, CAA	-	1	2	Marc Cruts
00149026	-	-	-	-	-	Italy	white	-	-	-	-	AD	-	1	1	Marc Cruts
00149030	-	-	-	-	-	Austria	white (Rumanian Ancestry)	-	-	-	-	AD	-	1	1	Marc Cruts
00149031	-	-	-	-	-	Germany	white	-	-	-	-	AD	-	1	3	Marc Cruts
00149032	-	-	-	-	-	Germany	white	-	-	-	-	AD	-	1	3	Marc Cruts
00149033	-	-	-	-	-	Germany	white	-	-	-	-	AD	-	1	2	Marc Cruts
00149034	-	-	-	-	-	Germany	white	-	-	-	-	AD	-	1	1	Marc Cruts
00149048	-	-	-	-	-	Italy	white	-	-	-	-	CAA	-	1	1	Marc Cruts
00149049	-	-	-	-	-	Italy	white	-	-	-	-	CAA	-	1	1	Marc Cruts
00149050	-	-	-	-	-	Italy	white	-	-	-	-	CAA	-	1	1	Marc Cruts
00149051	-	-	-	-	-	Italy	white	60y06m	-	-	-	CAA	-	1	3	Marc Cruts
00149054	-	-	-	-	-	United States	African American	40y	-	-	-	AD	-	1	4	Marc Cruts
00149079	-	-	-	-	-	-	-	-	-	-	-	AD	-	1	3	Marc Cruts
00149080	-	-	-	-	-	-	-	-	-	-	-	AD	-	1	3	Marc Cruts
00149081	-	-	-	-	-	-	-	-	-	-	-	AD	-	1	4	Marc Cruts
00149082	-	-	-	-	-	-	-	-	-	-	-	AD	-	1	6	Marc Cruts
00149083	-	-	-	-	-	-	-	-	-	-	-	AD	-	1	3	Marc Cruts
00149140	-	-	-	-	-	Belgium	white	56y	-	-	-	AD	-	1	1	Marc Cruts
00149204	-	-	-	-	-	United Kingdom (Great Britain)	white	61y05m	-	-	-	AD	-	1	6	Marc Cruts
00149354	-	-	Alzheimer Disease patients are homozygous for the mutation	-	-	Japan	Asian	56y09m	-	-	-	AD	-	1	5	Marc Cruts
00149355	-	-	Patient is homozygous for the mutation	-	-	Japan	Asian	-	-	-	-	AD	-	1	1	Marc Cruts
00149380	-	-	-	-	-	Korea	Asian	51y	-	-	-	AD	-	1	2	Marc Cruts
00149385	-	-	-	-	-	Belgium	white	69y06m	-	-	-	AD	-	1	3	Marc Cruts
00149414	-	-	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	?, AD	-	1	1	Marc Cruts
00149416	-	-	-	-	-	-	-	47y06m	-	-	-	AD	-	1	2	Marc Cruts
00149432	-	-	Iberia	-	-	-	white	33y	-	-	-	AD	-	1	1	Marc Cruts
00149448	-	-	-	-	-	Belgium	white	83y	-	-	-	AD	-	1	2	Marc Cruts
00149552	-	-	-	-	-	-	-	67y	-	-	-	AD, epilepsy	-	1	2	Marc Cruts
00149602	-	-	-	-	-	Italy	white	05y	-	-	-	AD, CAA	-	1	3	Marc Cruts
00149603	-	-	-	-	-	Italy	white	03y	-	-	-	AD, CAA	-	1	1	Marc Cruts
00149604	-	-	-	-	-	Italy	white	-	-	-	-	AD, CAA	-	1	1	Marc Cruts
00413239	family	PubMed: Sheffer 2015	4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Israel	Arab;Moslem	-	-	-	-	encephalopathy, neonatal, severe	poor suck (HP:0002033); gastroesophageal reflux (HP:0002020); restlessness (HP:0000711); severe motor delay (HP:0001270); speech delay (HP:0000750); infantile axial hypotonia (HP:0009062); spastic tetraplegia (HP:0002510); opisthotonos (HP:0002179); cerebral visual impairment (HP:0100704); vertical nystagmus (HP:0010544); myoclonic seizures (HP:0032794); multifocal polyspike wave complexes (HP:0002392); cerebellar hypoplasia (HP:0007360); hypoplasia of the cerebellar vermis (HP:0006817); dilation of lateral and fourth ventricle (HP:0006956, HP:0002198); micrognathia (HP:0000347); high arched palate (HP:0000218); prominent metopic suture (HP:0005487); posterior bulge of the skull (HP:0000929); fisted hands (HP:0001155)	1	2	Frederike Leonie Harms
00444517	Pat19	PubMed: Riquin 2023	patient	M	-	France	-	-	-	-	-	NDD	Severe intellectual disability, no language, abnormal behavior, autism, epilepsy	1	1	Johan den Dunnen

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Global Variome shared LOVD

APP (amyloid beta (A4) precursor protein)