All individuals with variants in gene HSD17B4

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.

73 entries on 1 page. Showing entries 1 - 73.

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
00000076	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00056385	-	PubMed: Demain 2016, Journal: Demain 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	Brazilian	-	-	-	-	PRLTS	see paper; ...	2	1	Leigh Demain
00073126	-	ATX107	-	F	-	France	-	-	-	-	-	PRLTS	-	2	1	Claire Guissart
00087080	-	PubMed: Ahmed 2015, Journal: Ahmed 2015	5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents	F;M	-	Saudi Arabia	-	-	-	-	-	PRLTS	see paper; profound hearing loss, brain atrophy, lower limb spasticity in early childhood, ...	2	3	Johan den Dunnen
00274164	Pat30	PubMed: Pronicka 2016	2-generation family, 2 affected brothers	F	-	Poland	-	-	-	-	-	?	deceased; neonatal onset; mitochondrial disease criteria score 2; muscle biopsy	2	2	Johan den Dunnen
00282832	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282833	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282834	-	PubMed: van Grunsven 1999, PubMed: Ferdinandusse 2006, PubMed: van Grunsven 1998	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282835	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282836	-	PubMed: van Grunsven 1999	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282837	-	PubMed: Sawyer 2014	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282838	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282839	-	PubMed: McMillan 2012, PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282840	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282841	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282842	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282843	-	PubMed: Paton 2002, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282844	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00282845	-	PubMed: Ferdinandusse 2006, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282846	-	PubMed: Nakano 2001, PubMed: Ferdinandusse 2006, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282847	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00282848	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282849	-	PubMed: Ferdinandusse 2006, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282850	-	PubMed: van Grunsven 1999	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282851	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282852	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282853	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282854	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00282855	-	PubMed: Möller 2001	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282856	-	PubMed: Lieber 2014	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282857	-	PubMed: Pierce 2010, PubMed: Fiumara 2004, PubMed: McCarthy 1985	-	-	-	-	-	-	-	-	-	PRLTS	-	1	1	Global Variome, with Curator vacancy
00282858	-	PubMed: Möller 2001	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282859	-	PubMed: Ferdinandusse 2006, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282860	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282861	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282862	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282863	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282864	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282865	-	PubMed: Ferdinandusse 2006, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282866	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282867	-	PubMed: Ferdinandusse 2006, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282868	-	PubMed: Bell 2011, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282869	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282870	-	PubMed: van Grunsven 1999	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282871	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282872	-	PubMed: Ferdinandusse 2006	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282873	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282874	-	-	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282875	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282876	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282877	-	PubMed: van Grunsven 1999, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282878	-	PubMed: van Grunsven 1999, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282879	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282880	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282881	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282882	-	PubMed: Sawyer 2014	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282883	-	PubMed: Lines 2014	-	-	-	-	-	-	-	-	-	deafness	gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	1	1	Global Variome, with Curator vacancy
00282884	-	PubMed: Shaheen 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00282885	-	PubMed: McMillan 2012, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282886	-	PubMed: Mizumoto 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282887	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282888	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282889	-	PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282890	-	PubMed: Lines 2014, PubMed: Sawyer 2014	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282891	-	PubMed: Pierce 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	PRLTS	-	1	1	Global Variome, with Curator vacancy
00282892	-	PubMed: Mizumoto 2012	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282893	-	PubMed: Ferdinandusse 2006, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	DBPD	-	1	1	Global Variome, with Curator vacancy
00282894	-	PubMed: Shaheen 2011	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00293704	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00361690	14DG2154	PubMed: Anazi 2017	simplex case	F	yes	Saudi Arabia	-	-	-	-	-	ID	syndromic; global developmental delay, elevated VLCFA, hypotonia, seizures	1	1	Johan den Dunnen
00398058	-	-	-	F	yes	Egypt	Egyptian	-	-	-	-	ataxia	A 29 year-old female presented for evaluation of progressive gait disorder started at the age of 10 years which intensified when vision was excluded. She developed intention tremors at the age of 23 years, numbness in upper and lower extremities of stroking and glove distribution at the age of 25 years and dysarthria at the age of 26 years. She had primary amenorrhea and gynecological evaluation confirmed the absence of the uterus and adnexa (ovarian agenesis) but normal secondary sexual characteristics. She was the product of consanguineous of two neurologically healthy parents. She had healthy and fertile sisters and brothers. Neurological examination revealed, mild dysarthria (staccato speech), gaze-evoked nystagmus, moderate upper and lower extremities dysmetria, moderate gait ataxia (ambulant and walked unassisted), brisk deep tendon jerks but absent ankle tendon jerks, She had bilateral pes cavus and hammer toes. Brain MRI showed cerebellar volume loss. Nerve conduction studies revealed symmetrically reduced nerve conduction velocities of motor median, ulnar, peroneal and tibial nerves; absent electrical response of sensory median, sensory ulnar and sural nerves; markedly reduced amplitudes of motor nerves of the upper and lower extremities indicating demyelinating and axonal sensorimotor neuropathy. Plantar responses were flexor, average intelligence. Pure tone audiometry was normal.	1	1	Sherifa Ahmed Hamed
00419452	-	-	-	M	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Viktoriia Zabnenkova
00427982	A050	PubMed: Bournazos 2022	family, 1 affected	-	-	Australia	-	-	-	-	-	?	-	2	1	Johan den Dunnen

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Global Variome shared LOVD

HSD17B4 (hydroxysteroid (17-beta) dehydrogenase 4)