Disease #05612 (NIID (neuronal intranuclear inclusion disease (NIID)), OMIM:603472)

Official abbreviation	NIID
Name	neuronal intranuclear inclusion disease (NIID)
OMIM ID	603472
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	80
Phenotype entries for this disease	80
Associated with 1 gene	NOTCH2NLC
Associated tissues	-
Disease features	-
Remarks	-
Date created	2019-06-19 15:39:37 +02:00 (CEST)
Date last edited	2020-05-15 10:24:05 +02:00 (CEST)

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'

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.

80 entries on 1 page. Showing entries 1 - 80.

Legend

How to query

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
00240393	Family 1	PubMed: Tian 2019, Journal: Tian 2019	5-generation family, 12 affected (1F, 11M), unaffected non-carrier parents	F;M	no	China	-	-	-	-	-	NIID	see paper; ...	NOTCH2NLC	NOTCH2NLC	1	12	Johan den Dunnen
00240394	Family 2	PubMed: Tian 2019, Journal: Tian 2019	2-generation family, 3 affected sibs (2F, M)	F;M	no	China	-	-	-	-	-	NIID	see paper; ...	NOTCH2NLC	NOTCH2NLC	1	3	Johan den Dunnen
00240395	Family 3	PubMed: Tian 2019, Journal: Tian 2019	2-generation family, affected mother/daughter/son (2F, M)	F;M	no	China	-	-	-	-	-	NIID	see paper; ...	NOTCH2NLC	NOTCH2NLC	1	3	Johan den Dunnen
00240396	Family 4	PubMed: Tian 2019, Journal: Tian 2019	2-generation family, 2 affected sisters	F	no	China	-	-	-	-	-	NIID	see paper; ...	NOTCH2NLC	NOTCH2NLC	1	2	Johan den Dunnen
00301413	Fam1Pat1	PubMed: Sone 2019	3-generation family, 10 affected (3F, 7M)	M	no	Japan	-	-	-	-	-	NIID	see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness	NOTCH2NLC	NOTCH2NLC	2	10	Johan den Dunnen
00301414	Fam1Pat8	PubMed: Sone 2019	-	M	-	Japan	-	-	-	-	-	NIID	see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301415	Fam2Pat2	PubMed: Sone 2019	3-generation family, 7 affected (4F, 3M)	F	-	Japan	-	-	-	-	-	NIID	see paper; ..., motor-sensory neuropathy, autonomic neuropathy and weakness	NOTCH2NLC	NOTCH2NLC	2	7	Johan den Dunnen
00301416	Fam3Pat1	PubMed: Sone 2019	3-generation family, 2 affected (2F)	F	-	Japan	-	-	-	-	-	NIID	see paper; ..., neuropathy (weakness), dementia	NOTCH2NLC	NOTCH2NLC	2	2	Johan den Dunnen
00301417	Fam4Pat2	PubMed: Sone 2019	2-generation family, 4 affected sisters (4F)	F	-	Japan	-	-	-	-	-	NIID	see paper; ..., dementia, leukoencephalopathy	NOTCH2NLC	NOTCH2NLC	2	4	Johan den Dunnen
00301418	Fam7Pat1	PubMed: Sone 2019	2-generation family, 2 affected (F, M)	F	-	Japan	-	-	-	-	-	NIID	see paper; ..., dementia, leukoencephalopathy	NOTCH2NLC	NOTCH2NLC	2	2	Johan den Dunnen
00301419	Fam8Pat1	PubMed: Sone 2019	2-generation family, 2 affected sisters (2F)	F	-	Japan	-	-	-	-	-	NIID	see paper; ..., dementia, leukoencephalopathy	NOTCH2NLC	NOTCH2NLC	2	2	Johan den Dunnen
00301420	Fam9Pat1	PubMed: Sone 2019	2-generation family, 2 affected (F, M)	M	-	Japan	-	-	-	-	-	NIID	see paper; ..., dementia, leukoencephalopathy	NOTCH2NLC	NOTCH2NLC	2	2	Johan den Dunnen
00301421	FamDPat2	PubMed: Sone 2019	3-generation family, 4 affected (2F, 2M)	M	-	Japan	-	-	-	-	-	NIID	see paper; ..., dementia, leukoencephalopathy	NOTCH2NLC	NOTCH2NLC	1	4	Johan den Dunnen
00301422	3619	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	see paper; ..., dementia, leukoencephalopathy	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301423	3624	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	see paper; ..., dementia, leukoencephalopathy	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301424	3692	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	see paper; ..., neuropathy (weakness), dementia	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301425	Fam10	PubMed: Sone 2019	3-generation family, 2 affected (F, M)	-	-	Japan	-	-	-	-	-	NIID	see paper; ..., dementia, leukoencephalopathy	NOTCH2NLC	NOTCH2NLC	2	4	Johan den Dunnen
00301426	3614	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301427	3615	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301428	3616	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301429	3618	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301430	3623	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301431	3625	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301432	3626	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301433	3627	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301434	3628	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301435	3630	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301436	3636	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301437	3639	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301438	3644	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301439	3645	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301440	3646	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301441	3647	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301442	3648	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301443	3650	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301444	3652	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301445	3653	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301446	3654	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301447	3658	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301448	3661	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301449	3662	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301450	3663	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301451	3665	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301452	3667	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301453	3668	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301454	3672	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301455	3673	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301456	3676	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301457	3677	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301458	3683	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301459	3687	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301460	S81	PubMed: Sone 2019	sporadic case	-	-	Japan	-	-	-	-	-	NIID	-	NOTCH2NLC	NOTCH2NLC	2	1	Johan den Dunnen
00301570	FamF6321	PubMed: Ishiura 2019	3-generation family, 4 affected (2F, M)	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	4	Johan den Dunnen
00301571	FamF9193	PubMed: Ishiura 2019	2-generation family, 4 affected brothers (4M)	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	4	Johan den Dunnen
00301572	FamF11393	PubMed: Ishiura 2019	2-generation family, 3 affected sibs (F, 2M)	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	3	Johan den Dunnen
00301573	FamF8504	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301574	Fam9703	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301575	Fam10198	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301576	Fam10522	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301577	Fam10524	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301578	Fam10709	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301579	Fam10983	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301580	Fam11312	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301581	Fam11624	PubMed: Ishiura 2019	family	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301582	NIIDSpoF7756	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301583	NIIDSpoF8791	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301584	NIIDSpoF8821	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301585	NIIDSpoF8832	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301586	NIIDSpoF8982	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301587	NIIDSpoF9224	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301588	NIIDSpoF9468	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301589	NIIDSpoF9681	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301590	NIIDSpoF9714	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301591	NIIDSpoF10587	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301592	NIIDSpoF10588	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301593	NIIDSpoF11596	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301594	PatF8775	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301595	PatF8776	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	NIID	MRI brain MCP sign and high-intensity signals on DWI corticomedullary junction and/or intranuclear inclusions in skin or brain tissues	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301596	MalPat1	PubMed: Ishiura 2019	-	-	-	Malaysia	China	-	-	-	-	NIID	tremor, ataxia, peripheral neuropathy, urinary incontinence, cognitive decline	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen
00301597	MalPat2	PubMed: Ishiura 2019	-	-	-	Malaysia	China	-	-	-	-	NIID	onset middle age; unusual resting and action upper limb tremor, gait ataxia, urinary incontinence	NOTCH2NLC	NOTCH2NLC	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

MSH6 (mutS homolog 6 (E. coli))