All individuals with variants in gene HGSNAT

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.

178 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	Variants	Panel size	Owner
00000007	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000008	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000012	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000044	-	PubMed: Bell 2011	Coriell sample	-	-	-	-	-	-	-	-	GA1	-	1	1	Global Variome, with Curator vacancy
00000068	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000099	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000100	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00112236	-	PubMed: Feldhammer 2009	-	F	-	Turkey	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112237	-	PubMed: Feldhammer 2009	-	M	-	Turkey	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112238	-	PubMed: Hrebicek 2006	-	F	-	Ireland	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112239	-	PubMed: Hrebicek 2006	-	F	-	Belarus	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112240	-	PubMed: Hrebicek 2006	-	F	-	France	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112241	-	PubMed: Hrebicek 2006	-	M	-	Spain	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112242	-	PubMed: Hrebicek 2006, PubMed: Ruijter 2008	-	M	-	Morocco	-	-	-	-	-	MPS3C	-	2	2	Stéphanie Durand
00112243	-	PubMed: Hrebicek 2006, PubMed: Ruijter 2008	-	F	-	Morocco	-	-	-	-	-	MPS3C	-	2	2	Stéphanie Durand
00112244	-	PubMed: Fedele 2007	-	M	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112245	-	PubMed: Ruijter 2008	-	F	-	Turkey	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112246	-	PubMed: Feldhammer 2009	-	F	-	Morocco	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112247	-	PubMed: Coutinho 2008	-	-	-	Portugal	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112248	-	PubMed: Fedele 2007, PubMed: Ruijter 2008	-	M	-	Netherlands	-	-	-	-	-	MPS3C	-	2	2	Stéphanie Durand
00112249	-	PubMed: Feldhammer 2009	-	-	-	Germany	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112250	-	PubMed: Fan 2006	-	-	-	Canada	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112251	-	PubMed: Fan 2006	-	-	-	Canada	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112252	-	PubMed: Hrebicek 2006	-	M	-	Canada	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112253	-	PubMed: Hrebicek 2006	-	M	-	Algeria	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112254	-	PubMed: Feldhammer 2009	-	M	-	Singapore	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112255	-	PubMed: Hrebicek 2006	-	F	-	Portugal	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112256	-	PubMed: Hrebicek 2006	-	M	-	Portugal	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112257	-	PubMed: Coutinho 2008	-	-	-	Portugal	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112258	-	PubMed: Coutinho 2008	-	-	-	Portugal	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112259	-	PubMed: Ruijter 2008	-	-	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112260	-	PubMed: Fedele 2007	-	M	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112261	-	PubMed: Hrebicek 2006	-	F	-	-	North African	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112262	-	PubMed: Fedele 2007	-	M	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112263	-	PubMed: Feldhammer 2009	-	F	-	Belgium;Italy	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112264	-	PubMed: Ruijter 2008	-	M	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112265	-	PubMed: Feldhammer 2009	-	-	-	Pakistan	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112266	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112267	-	PubMed: Ruijter 2008	-	M	-	Netherlands	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112268	-	PubMed: Hrebicek 2006	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112269	-	PubMed: Hrebicek 2006	-	F	-	France	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112270	-	PubMed: Feldhammer 2009	-	-	-	Turkey	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112271	-	PubMed: Hrebicek 2006	-	-	-	Czech Republic	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112272	-	PubMed: Fedele 2007	-	F	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112273	-	PubMed: Fedele 2007	-	F	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112274	-	PubMed: Fedele 2007	-	F	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112275	-	PubMed: Feldhammer 2009	-	M	-	Turkey	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112276	-	PubMed: Feldhammer 2009	-	M	-	Pakistan	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112277	-	PubMed: Hrebicek 2006	-	M	-	France	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112278	-	PubMed: Hrebicek 2006	-	-	-	Czech Republic	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112279	-	PubMed: Hrebicek 2006	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112280	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112281	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112282	-	PubMed: Ruijter 2008	-	M	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112283	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112284	-	PubMed: Ruijter 2008	-	M	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112285	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112286	-	PubMed: Feldhammer 2009	-	-	-	Germany	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112287	-	PubMed: Hrebicek 2006	-	-	-	Czech Republic	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112288	-	PubMed: Hrebicek 2006	-	-	-	Poland	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112289	-	PubMed: Hrebicek 2006	-	F	-	Finland	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112290	-	PubMed: Feldhammer 2009	-	F	-	Poland	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112291	-	PubMed: Hrebicek 2006	-	-	-	Czech Republic	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112292	-	PubMed: Hrebicek 2006	-	-	-	Poland	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112293	-	PubMed: Hrebicek 2006	-	-	-	Poland	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112294	-	PubMed: Hrebicek 2006, PubMed: Ruijter 2008	-	F	-	Turkey	-	-	-	-	-	MPS3C	-	1	2	Stéphanie Durand
00112295	-	PubMed: Fedele 2007	-	F	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112296	-	PubMed: Feldhammer 2009	-	M	-	Poland	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112297	-	PubMed: Feldhammer 2009	-	-	-	Turkey	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112298	Fam1C	PubMed: Ouesleti 2011	2-generation family, affected brothers, unaffected heterozygous carrier parents	M	yes	Tunisia	Mahdia	-	-	-	-	?	see paper; ..., sanfilippo type C, severe intellectual disability	2	2	Soumeya Bekri
00112299	-	PubMed: Hrebicek 2006	-	M	-	France	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112300	-	PubMed: Feldhammer 2009	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112301	-	PubMed: Feldhammer 2009	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112302	-	PubMed: Feldhammer 2009	-	-	-	Turkey	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112303	-	PubMed: Feldhammer 2009	-	F	-	United States	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112304	-	PubMed: Hrebicek 2006	-	M	-	Canada;United Kingdom (Great Britain)	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112305	-	PubMed: Feldhammer 2009	-	-	-	Greece	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112306	-	PubMed: Feldhammer 2009	-	-	-	Greece	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112307	-	PubMed: Hrebicek 2006	-	-	-	Poland	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112308	-	PubMed: Hrebicek 2006	-	M	-	Canada;France	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112309	-	PubMed: Hrebicek 2006	-	F	-	France	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112310	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	2	1	Stéphanie Durand
00112311	-	PubMed: Feldhammer 2009	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS3C	-	3	1	Stéphanie Durand
00112312	-	PubMed: Feldhammer 2009	-	-	-	Germany	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112313	-	PubMed: Fedele 2007	-	M	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112314	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112315	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112316	-	PubMed: Ruijter 2008	-	F	-	Netherlands	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112317	-	PubMed: Ruijter 2008	-	M	-	Netherlands	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112318	-	PubMed: Fedele 2007	-	F	-	Italy	-	-	-	-	-	MPS3C	-	1	1	Stéphanie Durand
00112319	-	PubMed: Hrebicek 2006, PubMed: Ruijter 2008	-	M	-	Turkey	-	-	-	-	-	MPS3C	-	1	2	Stéphanie Durand
00226154	Br1	PubMed: Martins 2019, Journal: Martins 2019	Brother Br2; origin: state of Paraiba	M	yes	Brazil	-	-	-	-	-	MPS3C	Intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240), splenomegaly (HP:0001744)	1	2	Carla Martins
00226218	Br2	PubMed: Martins 2019, Journal: Martins 2019	Brother Br1; origin: state of Paraiba	M	yes	Brazil	-	15y10m	-	-	-	MPS3C	Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240)	1	1	Carla Martins
00226219	Br3	PubMed: Martins 2019, Journal: Martins 2019	origin: state of Paraiba	M	no	Brazil	-	-	-	-	-	MPS3C	Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240)	2	1	Carla Martins
00226220	Br4	PubMed: Martins 2019, Journal: Martins 2019	origin: state of Paraiba	F	no	Brazil	-	-	-	-	-	MPS3C	Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887)	2	1	Carla Martins
00226221	Br8	PubMed: Martins 2019, Journal: Martins 2019	origin: state of Rio de Janeiro	F	no	Brazil	-	-	-	-	-	MPS3C	Hyperactivity (HP:0000752)	1	1	Carla Martins
00226222	USA1	PubMed: Martins 2019, Journal: Martins 2019	-	M	no	United States	white	-	-	-	-	MPS3C	Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943)	2	1	Carla Martins
00226224	Can1	PubMed: Martins 2019, Journal: Martins 2019	-	F	yes	Canada	white	-	-	-	-	MPS3C	Intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943), hepatomegaly (HP:0002240), splenomegaly (HP:0001744)	1	1	Carla Martins
00226225	Trk5	PubMed: Martins 2019, Journal: Martins 2019	-	M	yes	Turkey	-	-	-	-	-	MPS3C	Hyperactivity (HP:0000752),intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943), hepatomegaly (HP:0002240), splenomegaly (HP:0001744)	1	1	Carla Martins
00226226	Br5	PubMed: Martins 2019, Journal: Martins 2019	origin: state of Paraiba	F	no	Brazil	-	22y	-	-	-	MPS3C	Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887)	2	1	Carla Martins

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Global Variome shared LOVD

HGSNAT (heparan-alpha-glucosaminide N-acetyltransfe...)