All individuals with variants in gene IDS

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.

381 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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	2	1	Yu Sun
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)	2	1	Yu Sun
00080844	-	PubMed: Trujillano 2017	unaffected heterozygous carrier mother	-	-	-	-	-	-	-	-	MPS2	Mucopolysaccharidosis II (OMIM:309900)	1	1	Daniel Trujillano
00100282	?	-	-	M	-	Netherlands	-	-	-	-	-	MPS2	-	1	1	Jasper Saris
00100412	18396123-Pat1	PubMed: Galán-Gómez, Journal: Galán-Gómez	3-generation family, affected boy, maternal uncle (died at 4y) and cousin	M	-	Spain	-	-	-	-	enzyme replacement therapy with idursulfase	MPS2	see paper; ..., coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbowstiffness, hypospadias; dilatation perivascular spaces and white matter abnormalities, mitral regurgitation	1	3	Johan den Dunnen
00104939	-	-	healthy female proband, mother of two sons affected with MPS II. No clinical/genetic data was given for the index patients.	F	?	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Isabella Rau
00104940	-	-	Index patient, clinically and biochemically diagosed with MPS II.	M	?	Germany	-	-	-	-	-	MPS2	-	1	1	Isabella Rau
00104941	-	-	-	M	?	Germany	-	-	-	-	-	MPS2	Clinical and biochemical MPS II.	1	1	Isabella Rau
00114362	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114363	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	Mild MPSII phenotype	1	1	Miguel Angel Alcántara-Ortigoza
00114364	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114365	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114366	IDS58	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	carrier mother	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114367	IDS76	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114368	IDS7	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114369	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	Obligate carrier mother (positive familial history for Hunter syndrome) not available for analysis	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114370	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	Mild mental retardation; intellectual disability	1	1	Miguel Angel Alcántara-Ortigoza
00114371	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114372	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	Mild MPSII phenotype	1	1	Miguel Angel Alcántara-Ortigoza
00114373	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114374	IDS11	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	carrier mother	M	no	Mexico	Mexican	-	-	-	-	MPS2	severe	1	1	Miguel Angel Alcántara-Ortigoza
00114375	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	2-generation family, 1 affected MPSII male, 2 obligate MPSII carrier sisters and obligate carrier mother due to somatic and germline mosaicism.	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	3	Miguel Angel Alcántara-Ortigoza
00114376	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114377	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114378	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114379	IDS5	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	carrier mother	M	no	Mexico	Mexican	-	-	-	-	MPS2	severe	1	1	Miguel Angel Alcántara-Ortigoza
00114380	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114381	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114382	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114383	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114384	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	mild Hunter syndrome phenotype	1	1	Miguel Angel Alcántara-Ortigoza
00114385	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114386	-	PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016	-	M	no	Mexico	Mexican	-	-	-	-	MPS2	-	1	1	Miguel Angel Alcántara-Ortigoza
00114387	-	PubMed: Birot 1996	-	M	-	France	-	-	-	-	-	MPS2	mild-intermediate	1	1	Johan den Dunnen
00114388	-	-	-	M	no	United States	-	-	-	-	-	MPS2	-	1	1	Janell Kierstein
00114389	-	-	de novo in germ cells patient's grandfather	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS2	severe; never achieved bladder/bowel control, chronic diarrhea, limited speech, developmental delay	1	2	Johan den Dunnen
00114390	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS2	very severe; early onset of seizures, never attained speech; intellectual disability	1	1	Johan den Dunnen
00114391	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS2	very severe; ptosis, never attained speech; intellectual disability	1	1	Johan den Dunnen
00114392	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114393	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114394	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114395	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114396	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114397	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114398	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114399	-	-	-	M	-	France	-	-	-	-	-	MPS2	severe; epileptic seizures	1	1	Johan den Dunnen
00114400	-	-	-	M	-	France	-	-	-	-	-	MPS2	severe; MRI unusual cortical atrophy, demyelinization frontal/occipital areas	1	1	Johan den Dunnen
00114401	-	-	-	M	-	-	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114402	-	-	-	M	-	-	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114403	-	-	-	M	-	Portugal	-	-	-	-	-	MPS2	-	1	1	Yu Sun
00114404	-	-	-	M	-	-	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114405	-	PubMed: Birot 1996	-	M	-	France	-	-	-	-	-	MPS2	clinical features typical severe Hunter disease; MPS-II diagnosis assessed by high excretion HS/DS urine, IDS-deficiency leukocytes/fibroblasts	1	1	Johan den Dunnen
00114406	-	-	-	M	-	Sweden	-	-	-	-	-	MPS2	-	1	7	Johan den Dunnen
00114407	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114408	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114409	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114410	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114411	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114412	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114413	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114414	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114415	-	-	-	M	-	Portugal	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114416	-	-	-	M	-	Portugal	-	-	-	-	-	MPS2	severe	1	1	Yu Sun
00114417	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS2	-	2	1	Johan den Dunnen
00114418	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	2	1	Johan den Dunnen
00114419	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	2	1	Johan den Dunnen
00114420	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	2	1	Johan den Dunnen
00114421	-	-	carrier mother	M	-	Italy	-	-	-	-	-	MPS2	intermediate; developmental delay, recurrent respiratory infections, mild dysmorphisms; abnormal urinary glycosaminoglycans, IDS deficiency leukocytes	2	1	Johan den Dunnen
00114422	-	-	-	M	-	Italy	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114423	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	2	1	Johan den Dunnen
00114424	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	2	1	Johan den Dunnen
00114425	-	-	-	M	-	-	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114426	-	-	-	M	-	Spain	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114427	-	-	-	M	-	Turkey	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114428	-	-	-	M	-	Portugal	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen
00114429	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114430	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114431	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114432	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114433	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114434	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114435	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114436	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114437	-	-	-	M	-	-	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114438	-	-	-	M	-	-	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114439	-	-	-	M	-	Portugal	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114440	-	-	-	M	-	Poland	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114441	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114442	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	severe; intellectual disability	1	1	Johan den Dunnen
00114443	-	-	-	M	-	Italy	-	-	-	-	-	MPS2	intermediate	1	1	Johan den Dunnen
00114444	-	-	-	M	-	-	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114445	-	-	-	M	-	-	-	-	-	-	-	MPS2	intermediate	1	1	Johan den Dunnen
00114446	11462244-PatH5	PubMed: Filocamo 2001	-	M	-	Italy	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114447	11462244-PatH117	PubMed: Filocamo 2001	-	M	-	Italy	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114448	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114449	-	-	-	M	-	Poland	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114450	-	-	-	M	-	Japan	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114451	-	-	-	M	-	Italy	-	-	-	-	-	MPS2	-	1	1	Johan den Dunnen
00114452	-	-	-	M	-	Italy	-	-	-	-	-	MPS2	mild	1	1	Johan den Dunnen
00114453	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MPS2	severe	1	1	Johan den Dunnen

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Global Variome shared LOVD

IDS (iduronate 2-sulfatase)