All individuals with variants in gene SGSH

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.

52 entries on 1 page. Showing entries 1 - 52.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000006	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000014	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000049	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000085	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00102744	UMB563	PubMed: Sleat 2009	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	?	-	-	11y4m	-	-	-	MPS3A	-	1	1	Sara Mole
00102745	HSB4165	PubMed: Sleat 2009	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	?	-	-	53y	-	-	-	CLN	-	2	1	Sara Mole
00143765	-	-	-	M	-	-	-	-	-	-	-	MPS3A	-	3	1	Dr. Alexandra Wey-Fabrizius
00226364	Pat1A	PubMed: Ouesleti 2011	-	-	yes	Tunisia	Sfax	-	-	-	-	?	see paper; ...	1	1	Johan den Dunnen
00226365	Pat3A	PubMed: Ouesleti 2011	-	-	yes	Tunisia	Bizerte	-	-	-	-	?	see paper; ...	1	1	Johan den Dunnen
00226366	Pat4A	PubMed: Ouesleti 2011	-	-	yes	Tunisia	Tunis	-	-	-	-	?	see paper; ...	1	1	Johan den Dunnen
00226367	Pat5A	PubMed: Ouesleti 2011	-	-	yes	Tunisia	Bizerte	-	-	-	-	?	see paper; ...	1	1	Johan den Dunnen
00226368	Pat6A	PubMed: Ouesleti 2011	-	-	yes	Tunisia	Tunis	-	-	-	-	?	see paper; ...	1	1	Johan den Dunnen
00226369	Pat2A	PubMed: Ouesleti 2011	-	-	no	Tunisia	Kairouan	-	-	-	-	?	see paper; ...	2	1	Johan den Dunnen
00226370	Pat7A	PubMed: Ouesleti 2011	-	-	yes	Tunisia	Kairouan	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00291886	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291887	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291888	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	178	Mohammed Faruq
00304610	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00304611	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00311172	Case 2	PubMed: Kaiwar 2017	-	F	?	-	-	-	-	-	-	BBSOAS	Caesarian section (HP:0011410); Premature rupture of membranes (HP:0001788); Maternal hypertension (HP:0008071); Hyperemesis gravidarum (HP:0012188); Feeding difficulties in infancy (HP:0008872); Nasogastric tube feeding in infancy (HP:0011470); Heart murmur (HP:0030148); Bicuspid aortic valve (HP:0001647); Aortic aneurysm (HP:0004942); Muscular hypotonia (HP:0001252); Amblyopia (HP:0000646); Anisometropia (HP:0012803); Strabismus (HP:0000486); Neurodevelopmental delay (HP:0012758); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Hypertelorism (HP:0000316); Synophrys (HP:0000664); Cupped ear (HP:0000378); Macrocephaly (HP:0000256); Broad proximal phalanges of the hand (HP:0009852)	1	1	Benjamin Billiet
00331564	11DG0195	PubMed: Maddirevula 2018	isolated case	F	yes	-	-	-	-	-	-	skeletal dysplasia	Arab (Suda Kyphosis, Myopia, Hearing Impairment, Frontal bossing, Coarse facial features, HepatomeYes	1	1	LOVD
00361900	-	-	-	-	-	-	-	-	-	-	-	MPS3A, SPG11	Intellectual delay, coarse face, enzyme assay suggestive of Sanfilipo disease	1	1	Anju Shukla
00374487	S-4682	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Delayed speech and motor development, cognitive regression, hyperactivity, hypertrichosis, short stature, coarse facies and mild dysostosis multiplex	2	1	Johan den Dunnen
00379495	-	PubMed: Ousleti-2011	Novel	-	yes	Tunisia	Sfax	-	-	-	-	retinal disease	-	2	1	LOVD
00379496	-	PubMed: Ousleti-2011	Reference: Di Natale P. et al 1998	-	no	Tunisia	Kairouan	-	-	-	-	retinal disease	Known, Dental absces	1	1	LOVD
00379497	-	PubMed: Ousleti-2011	Rference: Esposito S. et al 2000	-	yes	Tunisia	Bizerte	-	-	-	-	retinal disease	Cerebral atrophy corpus callosum agenesis	2	1	LOVD
00379498	-	PubMed: Ousleti-2011	-	-	yes	Tunisia	Tunis	-	-	-	-	retinal disease	Ataxia	2	1	LOVD
00379499	-	PubMed: Ousleti-2011	Reference:Blanch L. et al 1997	-	yes	Tunisia	Bizerte	-	-	-	-	retinal disease	-	2	1	LOVD
00379500	-	PubMed: Ousleti-2011	-	-	yes	Tunisia	Tunis	-	-	-	-	retinal disease	Encephalopathy	2	1	LOVD
00455287	SGSH-1	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455288	SGSH-2	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455289	SGSH-3	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	1	1	Johan den Dunnen
00455290	SGSH-4	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455291	SGSH-5	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455292	SGSH-6	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455293	SGSH-7	PubMed: Pollard 2013, PubMed: Pollard 2016	family, 2 affected sibs	-	-	United States	-	-	-	-	-	MPS	-	2	2	Johan den Dunnen
00455294	SGSH-8	PubMed: Pollard 2013, PubMed: Pollard 2016	>1 unrelated patients	-	-	United States	-	-	-	-	-	MPS	-	3	2	Johan den Dunnen
00455295	SGSH-9	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455296	SGSH-10	PubMed: Pollard 2013, PubMed: Pollard 2016	>1 unrelated patients	-	-	United States	-	-	-	-	-	MPS	-	2	2	Johan den Dunnen
00455297	SGSH-11	PubMed: Pollard 2013, PubMed: Pollard 2016	family, 2 affected sibs	-	-	United States	-	-	-	-	-	MPS	-	2	2	Johan den Dunnen
00455298	SGSH-12	PubMed: Pollard 2013, PubMed: Pollard 2016	family, 2 affected sibs	-	-	United States	-	-	-	-	-	MPS	-	2	2	Johan den Dunnen
00455299	SGSH-13	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455300	SGSH-14	PubMed: Pollard 2013, PubMed: Pollard 2016	>1 unrelated patients	-	-	United States	-	-	-	-	-	MPS	-	3	2	Johan den Dunnen
00455301	SGSH-15	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455302	SGSH-16	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455303	SGSH-17	PubMed: Pollard 2013, PubMed: Pollard 2016	family, 2 affected sibs	-	-	United States	-	-	-	-	-	MPS	-	2	2	Johan den Dunnen
00455304	SGSH-18	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455305	SGSH-19	PubMed: Pollard 2013, PubMed: Pollard 2016	-	-	-	United States	-	-	-	-	-	MPS	-	2	1	Johan den Dunnen
00455306	SGSH	PubMed: Pollard 2016	family, 2 affected sibs	-	-	United States	-	-	-	-	-	MPS	-	1	2	Johan den Dunnen
00456256	Pat34	PubMed: Fernandez-Marmiesse 2014	-	M	-	Spain	-	-	-	-	-	?	see paper; ...	1	1	Johan den Dunnen
00456543	Pat33	PubMed: Fang 2022	-	F	-	China	-	-	-	-	-	MPS	severe	2	1	Johan den Dunnen
00456544	Pat34	PubMed: Fang 2022	-	F	-	China	-	-	-	-	-	MPS	severe	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

SGSH (N-sulfoglucosamine sulfohydrolase)