Disease #00448 (MLD (Metachromatic leukodystrophy), OMIM:250100)

Official abbreviation	MLD
Name	Metachromatic leukodystrophy
OMIM ID	250100
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	459
Phenotype entries for this disease	458
Associated with 1 gene	ARSA
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-07-09 20:27:53 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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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.

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Operator	Column type	Example	Matches
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=""	Text	="p.0"	all entries exactly matching 'p.0'
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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
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>=	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'

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459 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00018449	MLD_001	PubMed: Berger 1999	2-generation family, patient MLD_001	M	?	Austria	white	05y	-	-	-	MLD	juvenile MLD, diagnosed clinically and biochemically; GS 280 nmoles/mg lipid (normal=2+/-1)	ARSA	ARSA	7	5	Martina Cesani
00018555	Pt 17	Journal: Biffi 2008 Journal: Cesani (2009)	-	M	no	Italy	white	-	-	-	-	MLD	juvenile, MRI brain pathological; cognitive and motor decline as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00018557	Pt 20	Journal: Biffi 2008	-	F	no	Italy	white	-	-	-	-	MLD	juvenile, MRI brain pathological; cognitive/behavioral regression as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00018559	Pt 18	Journal: Biffi 2008	-	M	no	Italy	white	-	-	-	-	MLD	juvenile, MRI brain pathological; cognitive and motor decline as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00018560	Pt 19a	Journal: Biffi 2008	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	F	no	Italy	white	09y04m	-	-	-	MLD	juvenile, MRI brain pathological; cognitive/behavioral regression as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	2	Martina Cesani
00019495	Pt 23	Journal: Biffi 2008, Journal: Cesani 2009	-	M	no	Italy	white	-	-	-	-	MLD	juvenile, MRI brain pathological; cognitive/behavioral regression as first symptom; no peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	1	Martina Cesani
00019502	-	PubMed: Berger (1999)	2-generation family, dizygotic twin brother patient MLD_001	M	?	Austria	-	>12y06m	-	-	-	MLD	9.5y-neurological examination minimal signs of diffuse encephalopathy, minimal distally accentuated polyneuropathy; 12.5y-neurological findings entirely normal, excellent school reports, computerized tomography/nuclear magnetic resonance/nerve conduction velocity normal (11y and 12.2y); GS 137 nmoles/mg lipid (normal=2+/-1)	ARSA	ARSA	8	1	Johan den Dunnen
00019539	Pt 24	Journal: Biffi 2008, Journal: Cesani 2009	-	M	no	Italy	white	-	-	-	-	MLD	adult, MRI brain pathological; cognitive/behavioral regression as first symptom; no peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	1	Martina Cesani
00019540	Pt 7	Journal: Biffi 2008, Journal: Cesani 2009	-	M	no	France	white	-	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019542	Pt 13	Journal: Biffi 2008	-	M	no	Italy	white	-	-	-	-	MLD	late infantile, MRI brain pathological; cognitive/behavioral regression as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019543	Pt 21	Journal: Biffi 2008	-	F	no	Italy	white	17y	-	-	-	MLD	juvenile, MRI brain pathological; cognitive/behavioral regression as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019544	Pts 22a/b	Journal: Biffi 2008	2-generation family, 2 affected sibs, unaffected parents	-	?	Italy	white	-	-	-	-	MLD	Juvenile; no peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	2	Martina Cesani
00019545	Pt 10	Journal: Biffi 2008, Journal: Cesani 2009	-	M	no	Italy	white	-	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019546	Pt 4	Journal: Biffi 2008	-	F	no	Italy	white	05y03m	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019547	Pt 8	Journal: Biffi 2008	-	F	no	Italy	white	-	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019548	Pt 1	Journal: Biffi 2008, Journal: Cesani 2009	-	F	?	Italy	white	-	-	-	-	MLD	Late Infantile; peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	1	Martina Cesani
00019549	Pt 3	Journal: Biffi 2008	-	M	no	Italy	white	-	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019550	Pt 11	Journal: Biffi 2008, Journal: Cesani 2009	-	M	no	Italy	white	09y05m	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019591	Pt 16	Journal: Biffi 2008	-	F	no	Italy	white	-	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	2	1	Martina Cesani
00019592	Pt 5	Journal: Biffi 2008	-	F	no	Italy	white	12y4m	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	1	Martina Cesani
00019593	Pt 6	Journal: Biffi 2008	-	F	no	France	white	04y07m	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	1	Martina Cesani
00019594	Pt 9	Journal: Biffi 2008	-	F	no	Italy	white	04y10m	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	1	Martina Cesani
00019595	Pt 12	Journal: Biffi 2008	-	F	no	Italy	white	-	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	1	Martina Cesani
00019596	Pt 15	Journal: Biffi 2008	-	F	no	France	white	06y03m	-	-	-	MLD	late infantile, MRI brain pathological; gross motor impairment as first symptom; peripheral neuropathy (HP:0009830)	ARSA	ARSA	1	1	Martina Cesani
00019905	-	-	-	-	-	-	-	-	-	-	-	MLD	-	-	-	-	1	Martina Cesani
00034075	Pat12	PubMed: Grossi 2008, Journal: Grossi 2008	-	F	-	Italy	white	-	-	-	-	MLD	late infantile; MRI brain pathological, spastic paraparesis, ataxia, mental deterioration, symmetrical deep WM abnormalities	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034076	Pat4	PubMed: Grossi 2008	-	F	no	Italy	-	-	-	-	-	MLD	late infantile, spastic tetraparesis, mental deterioration, slowed motor NCV	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034077	Pat10	PubMed: Grossi 2008	-	F	no	Italy	-	-	-	-	-	MLD	late infantile; spastic tetraparesis, mental deterioration, slowed motor and sensory NCVs, symmetrical deep WM abnormalities	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034078	Pat16	PubMed: Grossi 2008	-	?	no	Italy	-	-	-	-	-	MLD	spastic tetraparesis, mental deterioration, slowed motor and sensory NCVs, symmetrical deep WM abnormalities	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034079	Pat17	PubMed: Grossi 2008, Journal: Grossi 2008	-	F	-	Italy	-	-	-	-	-	MLD	late infantile; spastic paraparesis, mental deterioration, slowed motor NCV, symmetrical deep WM abnormalities	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034081	Pat14	PubMed: Grossi 2008, Journal: Grossi 2008	-	F	-	Italy	-	-	-	-	-	MLD	late infantile; spastic paraparesis, dysarthria, slowed motor and sensory NCVs, symmetrical deep WM abnormalities	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034083	Pat11	PubMed: Grossi 2008, Journal: Grossi 2008	-	M	-	-	-	-	-	-	-	MLD	spastic paraparesis, mental deterioration, slowed motor and sensory NCVs, symmetrical deep WM abnormalities	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034084	FamA	PubMed: Hermann 2000	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	-	-	Switzerland	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	1	2	SIB - Livia Famiglietti
00034085	Pat4	PubMed: Berna 2004, Journal: Berna 2004	-	M	-	Czech Republic	Czechoslovakia	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034086	-	PubMed: Berna 2004, Journal: Berna 2004	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	-	-	1	SIB - Livia Famiglietti
00034087	Pat5	PubMed: Berna 2004, Journal: Berna 2004	-	M	no	Czech Republic	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034088	Pat6	PubMed: Berna 2004, Journal: Berna 2004	-	F	no	Czech Republic	-	-	-	-	-	MLD	adult	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034089	-	PubMed: Barth 1993	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	Alessandra Biffi
00034090	Pat9	PubMed: Berna 2004, Journal: Berna 2004	-	F	no	Czech Republic	-	-	-	-	-	MLD	adult	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034091	-	PubMed: Lugowska 2010	-	-	-	Poland	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034093	-	PubMed: Qu 1999	-	-	-	United States	-	-	-	-	-	MLD	adult	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034094	L22	PubMed: Gort 1999	-	-	-	Spain	white	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034095	L3	PubMed: Gort 1999	-	-	-	Spain	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034096	L18	PubMed: Gort 1999	-	-	-	Spain	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034097	L10a	PubMed: Gort 1999	Sibling of L10a	-	-	Spain	-	-	-	-	-	MLD	adult	ARSA	ARSA	2	2	SIB - Livia Famiglietti
00034098	L23a	PubMed: Gort 1999	sibling of L23b	-	-	Spain	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034099	L55	PubMed: Gort 1999	-	-	-	Spain	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034100	L31	PubMed: Gort 1999	-	-	-	Spain	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034101	L26	PubMed: Gort 1999	-	-	-	Spain	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034102	L2	PubMed: Gort 1999	-	-	-	Spain	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034103	-	PubMed: Hayashi 2011	-	F	-	Japan	-	-	-	-	-	MLD	adult, MRI brain pathological	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034105	-	PubMed: Draghia 1997	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034106	-	PubMed: Draghia 1997	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034107	-	PubMed: Draghia 1997	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034108	-	PubMed: Draghia 1997	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034109	-	PubMed: Draghia 1997	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034110	-	PubMed: Draghia 1997	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034111	-	PubMed: Draghia 1997	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034112	-	PubMed: Draghia 1997	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034113	patH	PubMed: Heinisch 1995	-	-	yes	Israel	Arab	-	-	-	-	MLD	late infantile	ARSA	ARSA	1	1	Alessandra Biffi
00034114	-	PubMed: Heinisch 1995	-	-	yes	Israel	Arab	-	-	-	-	MLD	late infantile	ARSA	ARSA	1	1	Alessandra Biffi
00034115	sib1	PubMed: Arbour 2000	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	M	-	Viet Nam	-	-	-	-	-	MLD	juvenile, MRI brain pathological, behavioral changes, epilepsy	ARSA	ARSA	2	2	SIB - Livia Famiglietti
00034116	-	PubMed: Qu 1999	-	-	-	United States	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034117	-	PubMed: Qu 1999	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	1	2	SIB - Livia Famiglietti
00034118	-	PubMed: Coulter-Mackie 1995	-	F	no	Canada	-	02y10m	-	-	-	MLD	late infantile, developmental delay, spina bifida, unusual physical features	ARSA	ARSA	2	1	Alessandra Biffi
00034119	-	PubMed: Lugowska 2010	-	-	-	Poland	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	Alessandra Biffi
00034120	sister 2	PubMed: Qu 1999	-	F	-	United States	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034121	-	PubMed: Tsuda 1996	-	M	-	Japan	Asian	-	-	-	-	MLD	late infantile, MRI-brain apthological	ARSA	ARSA	2	1	Alessandra Biffi
00034123	-	PubMed: Eng 2003	-	-	-	United States	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034124	-	PubMed: Eng 2003	-	-	-	United States	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034125	-	PubMed: Eng 2003	-	-	-	Malaysia	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034126	-	PubMed: Eng 2003	-	-	-	Canada	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034127	-	PubMed: Eng 2003	-	-	-	Canada	-	-	-	-	-	MLD	adult	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034128	Pat5	PubMed: Barth 1995	-	M	-	United Kingdom (Great Britain)	white	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	Alessandra Biffi
00034129	Pat8	PubMed: Barth 1995	-	F	-	United Kingdom (Great Britain)	white	-	-	-	-	MLD	juvenile	ARSA	ARSA	4	1	Alessandra Biffi
00034130	-	PubMed: Marcao 2005	-	-	-	Germany	Tamil	-	-	-	-	MLD	adult, MRI brain pathological, cognitive decline, no motor impairment	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034131	-	PubMed: Hasegawa 1993	-	-	-	Japan	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	1	1	Alessandra Biffi
00034132	-	PubMed: Olkhovich 2003	-	F	-	Ukraine	-	-	-	-	-	MLD	juvenile, MRI brain pathological	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034133	-	PubMed: Olkhovich 2003	-	F	-	Ukraine	-	-	-	-	-	MLD	late infantile, MRI brain pathological	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034134	-	PubMed: Olkhovich 2003	-	F	-	Ukraine	-	-	-	-	-	MLD	juvenile, MRI brain pathological	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034135	-	PubMed: Halsall 1999	-	F	-	United Kingdom (Great Britain)	white	-	-	-	-	MLD	adult	ARSA	ARSA	2	1	Alessandra Biffi
00034136	-	PubMed: Gallo 2004	-	M	no	Italy	-	-	-	-	-	MLD	adult, MRI brain pathological	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034138	-	PubMed: Kurosawa 1998	-	-	-	Japan	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	2	1	Alessandra Biffi
00034139	-	PubMed: Marcao 1999	-	-	-	Portugal	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034140	-	PubMed: Hermann 2000	-	M	-	France	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	SIB - Livia Famiglietti
00034141	-	PubMed: Coulter-Mackie 1998	-	F	-	Canada	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	Alessandra Biffi
00034142	-	PubMed: Lugowska 2010	-	-	-	Poland	-	-	-	-	-	MLD	juvenile	ARSA	ARSA	1	1	SIB - Livia Famiglietti
00034143	-	PubMed: Regis 1997	-	-	no	Italy	-	-	-	-	-	MLD	late infantile	ARSA	ARSA	1	1	Alessandra Biffi
00034144	-	PubMed: Gieselmann 1994	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	Johan den Dunnen
00034145	M6	PubMed: Shukla 2011	-	-	-	India	-	-	-	-	-	MLD	late infantile, MRI brain pathological	ARSA	ARSA	1	1	Johan den Dunnen
00034146	-	PubMed: Gieselmann 1994	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	Johan den Dunnen
00034147	-	PubMed: Gieselmann 1994	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	Johan den Dunnen
00034148	-	PubMed: Gieselmann 1994	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	Johan den Dunnen
00034149	Pat2	PubMed: Barth 1993	-	F	-	Italy	-	-	-	-	-	MLD	Juvenile	ARSA	ARSA	1	1	Johan den Dunnen
00034150	-	PubMed: Gieselmann 1994	-	-	-	-	-	-	-	-	-	MLD	-	ARSA	ARSA	1	1	Johan den Dunnen
00034151	-	PubMed: Schestag 2002	-	M	no	Morocco	Jewish	-	-	-	-	MLD	juvenile	ARSA	ARSA	1	1	Johan den Dunnen
00034152	-	PubMed: Suzuki 2008	-	M	-	Japan	-	-	-	-	-	MLD	adult, MRI brain pathological, cognitive decline, no motor impairment	ARSA	ARSA	2	1	Johan den Dunnen
00034153	Fam3	PubMed: Bertelli 2006	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Spain	-	-	-	-	-	MLD	late infantile, MRI brain pathological, gross motor impairment as first symptom	ARSA	ARSA	2	1	Johan den Dunnen
00034154	mother	PubMed: Comabella 2001	2-generation family, affected/mother/daugther, unaffected heterozygous carrier parents	F	-	Spain	-	-	-	-	-	MLD	late Infantile, peripheral neuropathy as first symptom, normal cognitive performance	ARSA	ARSA	2	2	Johan den Dunnen
00034155	-	PubMed: Hasegawa 1994	-	-	-	Japan	Asian	-	-	-	-	MLD	juvenile	ARSA	ARSA	2	1	Johan den Dunnen

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Global Variome shared LOVD

GLDC (glycine dehydrogenase (decarboxylating))