Disease #01941 (biotinidase deficiency, OMIM:253260)

Official abbreviation	-
Name	biotinidase deficiency
OMIM ID	253260
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	189
Phenotype entries for this disease	87
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

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
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Angola
(Angola)
Anguilla
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Australia
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Austria
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Bahrain
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bhutan
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
(Chile)
China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
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Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Fiji
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Grenada
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Guadeloupe
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Guam
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Guatemala
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Guiana, French
(Guiana, French)
Guinea
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Guinea-Bissau
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Guyana
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Honduras
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Hong Kong
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Hungary
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Indonesia
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Iran
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Iraq
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Ireland
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Israel
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
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Laos
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Latvia
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Paraguay
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Peru
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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South Africa
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Southern Territories, French
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Soviet Union (former)
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Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
(Turkey)
Turkmenistan
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Turks and Caicos Islands
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Tuvalu
(Tuvalu)
Uganda
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Ukraine
(Ukraine)
United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
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US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
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Venezuela
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Viet Nam
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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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189 entries on 2 pages. Showing entries 1 - 100.

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

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