All individuals with variants in gene BTD

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.

218 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00000010	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000021	-	PubMed: Bell 2011	-	-	-	-	-	-	0	-	-	BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000028	-	PubMed: Bell 2011	-	-	-	-	-	-	0	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000056	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000061	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000086	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000087	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000089	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000094	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00000096	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000107	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00105944	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 43%	2	1	Jasper Saris
00105945	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 54%	1	1	Jasper Saris
00105946	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 80%	2	1	Jasper Saris
00105947	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 109%	1	1	Jasper Saris
00105948	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 84%	1	1	Jasper Saris
00105949	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 106%	1	1	Jasper Saris
00105950	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 56%	2	1	Jasper Saris
00105951	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 52%	1	1	Jasper Saris
00105952	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 44%	2	1	Jasper Saris
00105953	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 54%	2	1	Jasper Saris
00105954	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 61%	2	1	Jasper Saris
00105955	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 58%	2	1	Jasper Saris
00105956	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 87%	1	1	Jasper Saris
00105957	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 56%	1	1	Jasper Saris
00105958	-	PubMed: Wiltink 2016	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 17%	1	1	Jasper Saris
00105959	-	PubMed: Wiltink 2016	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 26%	2	1	Jasper Saris
00105960	-	PubMed: Wiltink 2016	-	-	-	-	-	-	0	-	-	biotinidase deficiency	enzyme activity: 29%	3	1	Jasper Saris
00105961	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105962	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105963	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105964	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105965	-	-	-	-	-	-	-	-	0	-	-	?	-	7	1	Jasper Saris
00105966	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105967	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105968	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105969	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105970	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105971	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105972	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105973	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105974	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105975	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105976	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105977	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105978	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105979	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105980	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105981	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105982	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105983	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105984	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	biotinidase deficiency, partial	1	1	Jasper Saris
00105985	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105986	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	biotinidase deficiency, partial	1	1	Jasper Saris
00105987	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105988	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105989	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105990	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105991	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105992	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105993	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105994	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105995	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105996	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105997	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105998	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00105999	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106000	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106001	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	biotinidase deficiency, partial	1	1	Jasper Saris
00106002	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106003	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106004	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106005	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106006	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106007	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106008	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	biotinidase deficiency, partial	1	1	Jasper Saris
00106009	09396567-Pat41	PubMed: Pomponio 1997	-	?	yes	Italy	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106010	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106011	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106012	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106013	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106014	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106015	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106016	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106017	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106018	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106019	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106020	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106021	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106022	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106023	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106024	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	biotinidase deficiency, partial	1	1	Jasper Saris
00106025	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106026	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106027	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106028	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106029	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106030	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106031	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris
00106032	-	-	-	-	-	-	-	-	0	-	-	biotinidase deficiency	-	1	1	Jasper Saris

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Global Variome shared LOVD

BTD (biotinidase)