Disease #01941 (BTDD (biotinidase deficiency), OMIM:253260)

Official abbreviation	BTDD
Name	biotinidase deficiency
OMIM ID	253260
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	195
Phenotype entries for this disease	93
Associated with 1 gene	BTD
Associated tissues	-
Disease features	biotinidase deficiency, a form of multiple carboxylase deficiency
Remarks	autosomal recessive, caused by homozygous or compound heterozygous variants
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2025-11-20 13:57:20 +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
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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
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Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
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Moldova
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Monaco
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Mongolia
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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

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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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
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Example	Matches
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195 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00105944	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 43%	BTD	BTD	2	1	Jasper Saris
00105945	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 54%	BTD	BTD	1	1	Jasper Saris
00105946	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 80%	BTD	BTD	2	1	Jasper Saris
00105947	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 109%	BTD	BTD	1	1	Jasper Saris
00105948	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 84%	BTD	BTD	1	1	Jasper Saris
00105949	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 106%	BTD	BTD	1	1	Jasper Saris
00105950	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 56%	BTD	BTD	2	1	Jasper Saris
00105951	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 52%	BTD	BTD	1	1	Jasper Saris
00105952	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 44%	BTD	BTD	2	1	Jasper Saris
00105953	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 54%	BTD	BTD	2	1	Jasper Saris
00105954	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 61%	BTD	BTD	2	1	Jasper Saris
00105955	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 58%	BTD	BTD	2	1	Jasper Saris
00105956	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 87%	BTD	BTD	1	1	Jasper Saris
00105957	-	-	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 56%	BTD	BTD	1	1	Jasper Saris
00105958	-	PubMed: Wiltink 2016	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 17%	BTD	BTD	1	1	Jasper Saris
00105959	-	PubMed: Wiltink 2016	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 26%	BTD	BTD	2	1	Jasper Saris
00105960	-	PubMed: Wiltink 2016	-	-	-	-	-	-	-	-	-	BTDD	enzyme activity: 29%	BTD	BTD	3	1	Jasper Saris
00105961	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105962	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105963	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105964	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105966	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105967	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105968	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105969	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105970	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105971	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105972	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105973	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105974	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105975	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105976	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105977	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105978	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105979	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105980	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105981	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105982	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105983	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105984	-	-	-	-	-	-	-	-	-	-	-	BTDD	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00105985	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105986	-	-	-	-	-	-	-	-	-	-	-	BTDD	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00105987	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105988	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105989	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105990	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105991	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105992	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105993	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105994	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105995	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105996	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105997	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105998	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00105999	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106000	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106001	-	-	-	-	-	-	-	-	-	-	-	BTDD	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106002	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106003	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106004	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106005	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106006	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106007	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106008	-	-	-	-	-	-	-	-	-	-	-	BTDD	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106009	09396567-Pat41	PubMed: Pomponio 1997	-	?	yes	Italy	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106010	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106011	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106012	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106013	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106014	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106015	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106016	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106017	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106018	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106019	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106020	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106021	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106022	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106023	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106024	-	-	-	-	-	-	-	-	-	-	-	BTDD	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106025	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106026	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106027	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106028	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106029	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106030	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106031	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106032	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106033	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106034	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106035	-	-	-	-	-	-	-	-	-	-	-	BTDD	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106036	-	-	-	-	-	-	-	-	-	-	-	BTDD	multiple carboxylase deficiency	BTD	BTD	1	1	Jasper Saris
00106037	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106038	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106039	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106040	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106041	-	-	-	-	-	-	-	-	-	-	-	BTDD	biotinidase deficiency, partial	BTD	BTD	1	1	Jasper Saris
00106042	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106043	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris
00106044	-	-	-	-	-	-	-	-	-	-	-	BTDD	-	BTD	BTD	1	1	Jasper Saris

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Global Variome shared LOVD