All individuals with variants in gene NPC1

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.

322 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00000027	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000047	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000071	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00073121	-	ATX42	-	F	no	France	-	-	-	-	-	NPC1	-	2	1	Claire Guissart
00073122	-	ATX498	-	F	no	France	-	-	-	-	-	NPC1	-	2	1	Claire Guissart
00132806	15459971	PubMed: Di Leo 2004	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	-	Italy	-	-	-	-	-	NPC1	see paper; ..., progressive impairment of fine movements, dysarthria; 28y-vertical gaze paralysis, severe dysarthria, dysphagia, ataxia, tremor, intellectual impairment; sister 25y-gait ataxia, 20y-dysarthria, 24y-vertical gaze paralysis	6	2	Johan den Dunnen
00148570	-	-	-	F	-	-	-	-	-	-	-	NPC1	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00165102	Case 1	Kawazoe T, submitted	-	M	no	Japan	-	25y	-	-	Miglustat	NPC1	Prolonged neonatal jaundice (HP:0006579) Splenomegaly (HP:0001744) Intellectual disability, progressive (HP:0006887) Clumsiness (HP:0002312) Spastic ataxia (HP:0002497) Slowed slurred speech (HP:0007164) Schizophrenia (HP:0100753) Dysphagia (HP:0002015) Frequent falls (HP:0002359) Vertical supranuclear gaze palsy (HP:0000511) Choreoathetosis (HP:0001266) Limb dystonia (HP:0002451) Limb myoclonus (HP:0045084)	1	1	Tomoya Kawazoe
00165175	Case 2	Kawazoe T, submitted	-	F	no	Japan	-	28y	-	-	Miglustat	NPC1	Splenomegaly (HP:0001744) Auditory hallucinations (HP:0008765) Enuresis nocturna (HP:0010677) Sleep paralysis (HP:0025233) Abnormal eating behavior (HP:0100738) Excessive daytime sleepiness (HP:0002189) Oromandibular dystonia (HP:0012048) Motor tics (HP:0100034) Involuntary movements (HP:0004305)	1	2	Tomoya Kawazoe
00165176	Case 3	Kawazoe T, submitted	-	F	no	Japan	-	35y	-	-	Miglustat	NPC1	Schizophrenia (HP:0100753) Splenomegaly (HP:0001744)	1	1	Tomoya Kawazoe
00181150	72440	-	-	M	no	Eritrea	-	-	-	-	-	EE	-	1	1	Anaïs Begemann
00208611	Fam918	-	-	-	-	-	-	-	-	-	-	cancer, rectal	-	1	2	Xiang Jiao
00291919	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291920	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291921	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291922	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291923	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00306225	132	-	-	F	-	China	-	-	-	-	-	NPC1	-	2	1	Sha Hong
00307148	Pat6	PubMed: Krygier 2019	family, 2 affected brothers	M	-	Poland	-	-	-	-	-	ataxia	pyramidal signs, abnormal sleep‐wake rhythm, vertical supranuclear gaze palsy, hepatosplenomegaly, elevated serum levels of cholesterol, uric acid and aminotransferases, mild cognitive decline; MRI brain generalized cortical and subcortical atrophy, cerebellar atrophy	1	1	Johan den Dunnen
00307446	Fam19PatLP142	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	NP	characteristic phenotype (Neonatal jaundice and liver failure)	2	1	Johan den Dunnen
00314902	Trio95	PubMed: Zhu 2015	-	M	-	United States	-	-	-	-	-	?	Progressive ataxia, dysarthria, oculomotor apraxia, declining cognition.	1	1	Johan den Dunnen
00361472	-	-	-	-	-	-	-	-	-	-	-	NPC1	-	2	1	Gemeinschaftspraxis für Humangenetik Dresden
00374118	-	PubMed: Lefebvre 2021	fetus	F	-	France	-	-	-	-	-	?	32w-fetus, ultrasound Hydrops, hepatic cirrhosis; autopsy Ascitis, hepatic fibrosis, splenomegaly; ascitis	1	1	Johan den Dunnen
00374421	S-2000	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Difficulty in walking, slow response, ataxia, poor scholastic performance, extensor plantar reflex along with increased tone and reflex	2	1	Johan den Dunnen
00374796	R-0532	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00431870	SUDS032	-	-	M	-	Switzerland	Europe	00y03m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00431883	SIDS123	-	-	M	-	Switzerland	Europe	00y03m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00431889	SIDS226	-	-	F	-	Switzerland	Europe	00y02m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00434304	Pat1	PubMed: Lopez de Frutos 2020	3-generation family, 1 affected, unaffected heterozygous parents/relatives	F	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; cholestasis; neurological involvement; psychomotor retardation, vertical ophthalmoplegia, photophobia, rigidity lower extremities with varus deviation	1	1	Johan den Dunnen
00434305	Pat2	PubMed: Lopez de Frutos 2020	2-generation family, 1 affected, unaffected heterozygous parents/relatives	M	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; no cholestasis; neurological involvement	1	1	Johan den Dunnen
00434306	Pat3	PubMed: Lopez de Frutos 2020	2-generation family, 1 affected, unaffected heterozygous parents	M	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; cholestasis; no neurological involvement	1	1	Johan den Dunnen
00434307	Pat4	PubMed: Lopez de Frutos 2020	2-generation family, 1 affected, unaffected heterozygous parents/relatives	M	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; no cholestasis; neurological involvement	2	1	Johan den Dunnen
00434308	Pat5	PubMed: Lopez de Frutos 2020	-	F	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; cholestasis; neurological involvement	2	1	Johan den Dunnen
00434309	Pat6	PubMed: Lopez de Frutos 2020	-	F	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; no cholestasis; no neurological involvement	2	1	Johan den Dunnen
00434310	Pat7	PubMed: Lopez de Frutos 2020	-	M	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; no cholestasis; no neurological involvement	2	1	Johan den Dunnen
00434311	-	PubMed: Lopez de Frutos 2020	analysis 22 cases NPC	-	-	Spain	-	-	-	-	-	NP	-	1	3	Johan den Dunnen
00434313	NP3	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)	1	2	Johan den Dunnen
00434314	NP10	PubMed: Fancello 2009	-	-	-	Italy	-	3y	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)	2	2	Johan den Dunnen
00434315	NP18	PubMed: Fancello 2009	-	-	-	Italy	-	3y	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)	1	2	Johan den Dunnen
00434317	NP3sib	PubMed: Fancello 2009	-	-	-	Italy	-	2m	-	-	-	NP	jaundice (HP:0000952)	1	1	Johan den Dunnen
00434318	NP7	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)	1	1	Johan den Dunnen
00434319	NP9	PubMed: Fancello 2009	-	-	-	Italy	-	2m	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)	2	1	Johan den Dunnen
00434320	NP10sib	PubMed: Fancello 2009	-	-	-	Italy	-	2m	-	-	-	NP	jaundice (HP:0000952)	2	1	Johan den Dunnen
00434321	NP12	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); ataxia (HP:0001251)	1	1	Johan den Dunnen
00434322	NP13	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); ataxia (HP:0001251)	1	2	Johan den Dunnen
00434323	NP13sib	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263)	1	1	Johan den Dunnen
00434324	NP14	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)	1	1	Johan den Dunnen
00434325	NP16	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)	1	1	Johan den Dunnen
00434326	NP18sib	PubMed: Fancello 2009	-	-	-	Italy	-	4m	-	-	-	NP	jaundice (HP:0000952); hepatomegaly (HP:0002240)	2	1	Johan den Dunnen
00434327	NP30	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)	1	1	Johan den Dunnen
00434330	NP1	PubMed: Fancello 2009	-	-	-	Italy	-	5y	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	2	1	Johan den Dunnen
00434331	NP2	PubMed: Fancello 2009	-	-	-	Italy	-	10y	-	-	-	NP	classical phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	1	1	Johan den Dunnen
00434332	NP4	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); hypotonia (HP:0001252); spastic tetraparesis (HP:0001285)	1	1	Johan den Dunnen
00434333	NP5	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)	2	1	Johan den Dunnen
00434334	NP6	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250)	2	1	Johan den Dunnen
00434335	NP11	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	intermediate phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250); psychotic symptoms (HP:0000725)	1	1	Johan den Dunnen
00434336	NP15	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015)	1	1	Johan den Dunnen
00434337	NP17	PubMed: Fancello 2009	-	-	-	Italy	-	5y	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)	2	1	Johan den Dunnen
00434338	NP19	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250)	2	2	Johan den Dunnen
00434339	NP25	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	1	1	Johan den Dunnen
00434340	NP26	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); ataxia (HP:0001251); epilepsy (HP:0001250); psychotic symptoms (HP:0000725)	3	1	Johan den Dunnen
00434341	NP27	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	2	1	Johan den Dunnen
00434342	NP28	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); epilepsy (HP:0001250); cataplexy	2	1	Johan den Dunnen
00434343	NP24	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)	1	3	Johan den Dunnen
00434344	NP24sib	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)	1	1	Johan den Dunnen
00434345	NP25sib	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	1	1	Johan den Dunnen
00434346	NP32	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); psychotic symptoms (HP:0000725); cataplexy	1	3	Johan den Dunnen
00434347	NP32sib1	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	dysarthria (HP:0001260); ataxia (HP:0001251)	2	1	Johan den Dunnen
00434348	NP32sib2	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	dysarthria (HP:0001260); ataxia (HP:0001251)	2	1	Johan den Dunnen
00434349	NP21	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); ataxia (HP:0001251); psychotic symptoms (HP:0000725)	2	1	Johan den Dunnen
00434350	NP23	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); hypotonia (HP:0001252); ataxia (HP:0001251); psychotic symptoms (HP:0000725)	1	1	Johan den Dunnen
00434351	NP31	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	epilepsy (HP:0001250); psychotic symptoms (HP:0000725)	2	1	Johan den Dunnen
00434352	NP33	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysphagia (HP:0002015); psychotic symptoms (HP:0000725)	1	1	Johan den Dunnen
00434353	NP8	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)	1	1	Johan den Dunnen
00434354	NP19sib	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	splenomegaly (HP:0001744); 15m-substrate reduction therapy	2	1	Johan den Dunnen
00434355	NP22	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)	2	1	Johan den Dunnen
00434356	NP29	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	7m-substrate reduction therapy	1	1	Johan den Dunnen
00434366	FamPat2.2/3	PubMed: Klunemann 2002	3-generation family, 2 affected sisters, unaffected heterozygous parents/relatives	F	-	Canada	French-Canadian;Germany;Ireland	-	-	-	-	NP	see paper	4	2	Johan den Dunnen
00434374	99010	PubMed: Millat 2005	-	-	-	Belgium	-	2y5m	-	-	-	NP	-	1	1	Johan den Dunnen
00434375	21124	PubMed: Millat 2005	-	-	-	France	-	4y4m	-	-	-	NP	-	2	1	Johan den Dunnen
00434376	22032	PubMed: Millat 2005	-	-	-	Pakistan	-	4y6m	-	-	-	NP	-	2	1	Johan den Dunnen
00434377	93175	PubMed: Millat 2005	-	-	-	Canada	French-Canadian	6m	-	-	-	NP	-	1	1	Johan den Dunnen
00434378	21133	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	2	1	Johan den Dunnen
00434379	82042	PubMed: Millat 2005	-	-	-	France	-	5y9m	-	-	-	NP	-	2	1	Johan den Dunnen
00434380	23050	PubMed: Millat 2005	-	-	-	France;Portugal	-	-	-	-	-	NP	-	1	1	Johan den Dunnen
00434381	94097	PubMed: Millat 2005	-	-	-	France	-	9m	-	-	-	NP	-	2	1	Johan den Dunnen
00434382	96127	PubMed: Millat 2005	-	-	-	France	-	8m	-	-	-	NP	-	2	1	Johan den Dunnen
00434383	23015	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	2	1	Johan den Dunnen
00434384	94102	PubMed: Millat 2005	-	-	-	France	-	11m	-	-	-	NP	-	2	1	Johan den Dunnen
00434385	20019	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	2	1	Johan den Dunnen
00434386	250	PubMed: Millat 2005	-	-	-	France	-	16y6m	-	-	-	NP	-	2	1	Johan den Dunnen
00434387	85091	PubMed: Millat 2005	-	-	-	France	-	27y	-	-	-	NP	-	1	1	Johan den Dunnen
00434388	96054	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	2	1	Johan den Dunnen
00434389	98033	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	2	1	Johan den Dunnen
00434390	24129	PubMed: Millat 2005	-	-	-	Belgium	-	-	-	-	-	NP	-	1	1	Johan den Dunnen
00434391	96091	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	2	1	Johan den Dunnen
00434392	84045	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	2	1	Johan den Dunnen
00434393	24023	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	1	1	Johan den Dunnen
00434394	82052	PubMed: Millat 2005	-	-	-	Belgium	-	19y	-	-	-	NP	-	2	1	Johan den Dunnen
00434395	96092	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	2	1	Johan den Dunnen

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Global Variome shared LOVD

NPC1 (Niemann-Pick disease, type C1)