All individuals with variants in gene POLR3A

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.

181 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	Variants	Panel size	Owner
00107928	-	PubMed: Saitsu 2011	-	M	-	-	-	-	-	-	-	HLD7	Diffuse cerebral hypomyelination with cerebellar atrophy, hypoplasia of corpus callosum; HCAHC	2	1	Johan den Dunnen
00144619	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Intellectual disability (HP:0001249); Dystonia (HP:0001332); Dysarthria (HP:0001260); Parkinsonism (HP:0001300)	1	1	IMGAG
00151388	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Dystonia (HP:0001332); Dysarthria (HP:0001260); Gait ataxia (HP:0002066); Mild global developmental delay (HP:0011342)	1	1	IMGAG
00207537	WRS001	PubMed: Paolacci 2017, PubMed: Paolacci 2018	-	F	-	Italy	white	-	-	-	-	WDRTS	see paper; …	2	1	Johan den Dunnen
00207538	WRS002	PubMed: Rautenstrauch 1977, PubMed: Paolacci 2018	consanguineous parents (fourth degree cousins)	F	yes	Brazil	-	-	-	-	-	WDRTS	see paper; …	3	1	Johan den Dunnen
00207539	FamWRS003	PubMed: Paolacci 2018	-	-	-	Germany	-	-	-	-	-	WDRTS	see paper; …	3	1	Johan den Dunnen
00207540	Pat2;WRS004	PubMed: Akawi 2013, PubMed: Paolacci 2018	family, 3 affected sibs	-	-	United Arab Emirates	-	-	-	-	-	WDRTS	see paper; …	3	3	Johan den Dunnen
00207541	FamWRS005	PubMed: Paolacci 2017, PubMed: Paolacci 2018	-	-	-	Italy	-	-	-	-	-	WDRTS	see paper; …	3	2	Johan den Dunnen
00207542	Pat1/2;FamWRS006	PubMed: Arboleda 1997, PubMed: Paolacci 2018	family, 2 affected sibs	-	-	Colombia	-	-	-	-	-	WDRTS	see paper; …	1	2	Johan den Dunnen
00207543	Pat1;WRS007	PubMed: Morales 2009, PubMed: Paolacci 2018	-	-	-	Colombia	-	-	-	-	-	WDRTS	see paper; …	1	1	Johan den Dunnen
00207544	Pat2;WRS008	PubMed: Morales 2009, PubMed: Paolacci 2018	-	-	-	Colombia	-	-	-	-	-	WDRTS	see paper; …	2	1	Johan den Dunnen
00207545	Pat3;WRS009	PubMed: Morales 2009, PubMed: Paolacci 2018	-	-	-	Colombia	-	-	-	-	-	WDRTS	see paper; …	2	1	Johan den Dunnen
00207546	FamWRS010	PubMed: Arboleda 2011, PubMed: Paolacci 2018	family, 3 affected sibs	-	-	Colombia	-	-	-	-	-	WDRTS	see paper; …	1	3	Johan den Dunnen
00207547	FamWRS011	PubMed: Paolacci 2018	-	-	-	Colombia	-	-	-	-	-	WDRTS	see paper; …	1	1	Johan den Dunnen
00207548	FamWRS012	PubMed: Paolacci 2017, PubMed: Paolacci 2018	-	-	-	Italy	-	-	-	-	-	WDRTS	see paper; …	2	1	Johan den Dunnen
00207552	FamWRS004f	PubMed: Paolacci 2018	father of WRS004	M	-	United Arab Emirates	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00207553	21855841-FamIPat1	PubMed: Bernard 2011	-	M	-	Canada	French Canadian	-	-	-	-	HLD	developmental delay; cognitive regression; no seizures; no optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 5y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism;	2	1	Johan den Dunnen
00207554	21855842-FamIIPat2	PubMed: Bernard 2011	family, 3 affcted (F, 2M)	M	yes	Canada	French Canadian	-	-	-	-	HLD	developmental delay; cognitive regression; seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;	1	3	Johan den Dunnen
00207555	21855842-FamIIPat3	PubMed: Bernard 2011	-	M	yes	Canada	French Canadian	-	-	-	-	HLD	developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;	1	1	Johan den Dunnen
00207556	21855842-FamIIPat4	PubMed: Bernard 2011	-	F	yes	Canada	French Canadian	21y	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy	1	1	Johan den Dunnen
00207557	21855842-FamIIIPat5	PubMed: Bernard 2011	-	M	-	Canada	French Canadian	-	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 12y wheelchair bound; no hypodontia; hypogonadotropic hypogonadism; no nerve biopsy	1	1	Johan den Dunnen
00207558	21855843-FamIVPat6	PubMed: Bernard 2011	-	F	-	Canada	French Canadian	-	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; no hypodontia; hypogonadotropic hypogonadism;	1	1	Johan den Dunnen
00207559	21855844-FamVPat7	PubMed: Bernard 2011	-	F	-	United States	white	-	-	-	-	HLD	no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy	2	1	Johan den Dunnen
00207560	21855844-FamVIPat8	PubMed: Bernard 2011	-	F	-	United States	African American	-	-	-	-	HLD	developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 10y wheelchair bound; hypodontia; hypogonadotropic hypogonadism;	2	1	Johan den Dunnen
00207561	21855844-FamVIIPat9	PubMed: Bernard 2011	-	M	-	United States	white	36y	-	-	-	HLD	no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 30y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy	2	1	Johan den Dunnen
00207562	21855844-FamVIIIPat10	PubMed: Bernard 2011	-	F	-	United States	white	-	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy	2	1	Johan den Dunnen
00207563	21855844-FamIXPat11	PubMed: Bernard 2011	-	F	-	France	-	-	-	-	-	HLD	developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; hypogonadotropic hypogonadism;	2	1	Johan den Dunnen
00207564	21855844-FamXPat12	PubMed: Chouery 2011, PubMed: Bernard 2011	6-generation family, 6 affected (3F, 3M)	M	yes	Syria	-	28y	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 23y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;	1	6	Johan den Dunnen
00207565	21855845-FamXPat13	PubMed: Chouery 2011, PubMed: Bernard 2011	-	F	yes	Syria	-	-	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 20y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;	1	1	Johan den Dunnen
00207566	21855846-FamXPat14	PubMed: Chouery 2011, PubMed: Bernard 2011	-	F	yes	Syria	-	-	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 20y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;	1	1	Johan den Dunnen
00207567	21855847-FamXPat15	PubMed: Chouery 2011, PubMed: Bernard 2011	-	F	yes	Syria	-	-	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;	1	1	Johan den Dunnen
00207568	21855848-FamXPat16	PubMed: Chouery 2011, PubMed: Bernard 2011	-	M	yes	Syria	-	-	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;	1	1	Johan den Dunnen
00207569	21855849-FamXPat17	PubMed: Chouery 2011, PubMed: Bernard 2011	-	M	yes	Syria	-	-	-	-	-	HLD	no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;	1	1	Johan den Dunnen
00207570	21855850-FamXIPat18	PubMed: Bernard 2011	-	F	-	-	white, Europe	-	-	-	-	HLD	developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy	2	1	Johan den Dunnen
00207571	21855850-FamXIIPat19	PubMed: Bernard 2011	-	M	-	Guatemala	-	-	-	-	-	HLD	developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; no dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 9y wheelchair bound; hypodontia	1	1	Johan den Dunnen
00290148	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	13	Mohammed Faruq
00290149	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00302810	patient	PubMed: Khalifa 2015, comment PubMed: Thiffault 2016	-	F	-	Egypt	-	-	-	-	-	?	see paper; ...	3	1	Johan den Dunnen
00307122	-	-	-	M	-	-	-	-	-	-	-	?	Ataxia (HP:0001251); Dysarthria (HP:0001260); Gait ataxia (HP:0002066); Hand tremor (HP:0002378)	2	1	IMGAG
00319994	-	-	-	-	no	Japan	-	-	-	-	-	HLD7	-	2	1	Hiroshi Doi
00326825	4H-15	PubMed: Daoud 2013	family, 2 affected	-	-	-	-	-	-	-	-	HLD	-	1	2	Johan den Dunnen
00326829	4H-19	PubMed: Daoud 2013	-	-	no	-	white	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326830	4H-16	PubMed: Daoud 2013	-	-	-	-	-	-	-	-	-	HLD	-	1	1	Johan den Dunnen
00326831	4H-42	PubMed: Wolf 2014	-	-	no	-	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326832	4H-18	PubMed: Daoud 2013	family, 2 affected	-	yes	-	Mediterranean	-	-	-	-	HLD	-	1	2	Johan den Dunnen
00326833	4H-41	PubMed: Wolf 2014	-	-	no	-	Mediterranean	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326834	4H-20	PubMed: Daoud 2013	-	-	no	-	white	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326836	4H-17	PubMed: Daoud 2013	-	-	yes	-	Mediterranean	-	-	-	-	HLD	-	1	1	Johan den Dunnen
00326837	4H-32	PubMed: Wolf 2014	-	-	no	-	Hispanic	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326840	4H-48	PubMed: Wolf 2005	-	-	no	-	Europe-Central	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326843	4H-30	PubMed: Wolf 2014	-	-	no	-	white	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326845	4H-31	PubMed: Wolf 2014	-	-	no	-	white	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326846	4H-33	PubMed: Wolf 2014	-	-	no	-	white	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326849	4H-21	PubMed: Daoud 2013	-	-	no	Malaysia	white	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326855	4H-66	PubMed: Wolf 2014	-	-	no	-	Mediterranean	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326856	4H-43	PubMed: Wolf 2014	-	-	no	-	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326857	4H-22	PubMed: Daoud 2013	-	-	no	-	Hispanic	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326872	4H-46	PubMed: Timmons 2006	-	-	no	-	Europe-West	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326880	4H-67	PubMed: Wolf 2014	-	-	no	-	Mediterranean	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326885	4H-90	PubMed: Wolf 2014	-	-	no	-	Europe-Central	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326888	4H-75	PubMed: Wolf 2007	-	-	no	-	Mediterranean	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326889	4H-77	PubMed: Vazquez-Lopez 2008	-	-	yes	-	Mediterranean	-	-	-	-	HLD	-	1	1	Johan den Dunnen
00326890	4H-79	PubMed: Wolf 2014	family, 2 affected	-	no	-	white	-	-	-	-	HLD	-	2	2	Johan den Dunnen
00326892	4H-36	PubMed: Wolf 2014	-	-	no	-	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326893	4H-80	PubMed: Wolf 2014	-	-	no	-	white	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326898	4H-85	PubMed: Wolf 2014	-	-	no	-	Europe-West	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326899	4H-86	PubMed: Wolf 2014	-	-	no	-	Europe-West	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326902	4H-89	PubMed: Wolf 2014	-	-	no	-	Mediterranean	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00326903	4H-91	PubMed: Bekiesinska-Figatowska 2010	family, 2 affected	-	yes	-	Mediterranean	-	-	-	-	HLD	-	1	2	Johan den Dunnen
00326905	4H-92	PubMed: Wolf 2014	-	-	yes	-	Mediterranean	-	-	-	-	HLD	-	1	1	Johan den Dunnen
00326906	4H-97	PubMed: Wolf 2014	-	-	no	-	Mediterranean	-	-	-	-	HLD	-	1	1	Johan den Dunnen
00326910	4H-100	PubMed: Wolf 2014	-	-	no	-	Mediterranean	-	-	-	-	HLD	-	1	1	Johan den Dunnen
00326912	4H-11	PubMed: Potic 2012	-	-	no	-	Europe-SouthEast	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00374309	R-1349	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Neuroregression, frequent falls, slurred speech, cognitive decline, drooling and mild cerebral atrophy	1	1	Johan den Dunnen
00438804	Pat1	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; hypertelorism; telecanthus; long palpebral fissures; short philtrum; smooth philtrum; pointed chin; large mouth, bilateral syndactyly 2-3 toes	2	1	Johan den Dunnen
00438805	Pat2	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; bitemporal narrowing; hypertelorism; long palpebral fissures; flat midface; pinched nose; thin upper lip	1	1	Johan den Dunnen
00438806	Pat3	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; pinched nose; short philtrum; pointed chin	1	1	Johan den Dunnen
00438807	Pat4	PubMed: Mirchi 2023	-	F	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; hypertelorism; low-set ears; pointed chin; chin dimple	1	1	Johan den Dunnen
00438808	Pat5	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; long palpebral fissures; low-set ears; flat midface; bulbous tip of the nose; short philtrum; pointed chin	2	1	Johan den Dunnen
00438809	Pat6	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; flat midface; pinched nose; bulbous tip of the nose; short chin; sparing of lateral eyebrows	2	1	Johan den Dunnen
00438810	Pat7	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; hypertelorism; flat midface; short philtrum; short chin; upturned nose	2	1	Johan den Dunnen
00438811	Pat8	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; smooth philtrum; pointed chin	2	1	Johan den Dunnen
00438812	Pat9	PubMed: Mirchi 2023	-	F	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; flat midface; smooth philtrum; full lower lip; deviating nasal root, retrognathia	2	1	Johan den Dunnen
00438813	Pat10	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; bitemporal narrowing; hypertelorism; short philtrum; short chin; short neck	2	1	Johan den Dunnen
00438814	Pat11	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; pinched nose; short philtrum; pointed chin; triangular face	2	1	Johan den Dunnen
00438815	Pat12	PubMed: Mirchi 2023	-	F	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; bulbous tip of the nose; smooth philtrum; pointed chin	2	1	Johan den Dunnen
00438816	Pat13	PubMed: Mirchi 2023	-	F	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; pinched nose; smooth philtrum; pointed chin; ptosis, bifid tip of the nose	2	1	Johan den Dunnen
00438817	Pat14	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; bitemporal narrowing; flat midface; smooth philtrum; ptosis, downslanting palpebral fissure, mildly overfoled helixes, prognatism	2	1	Johan den Dunnen
00438818	Pat15	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; pinched nose; short philtrum; thin upper lip; full lower lip; hypotelorism, broad nasal tip, low-hanging columella	1	1	Johan den Dunnen
00438819	Pat16	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; hypertelorism; smooth philtrum; full lower lip; pointed chin; sparce medial eyebrows, broad nasal bridge	2	1	Johan den Dunnen
00438834	Pat31	PubMed: Mirchi 2023	-	M	-	Canada	-	-	-	-	-	HLD	hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; low-set ears; flat midface; bulbous tip of the nose; smooth philtrum; pointed chin; epicanthal fold	2	1	Johan den Dunnen
00438837	Pat3	PubMed: Yazidi 2019	-	F	-	Canada	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00438838	Pat4	PubMed: Yazidi 2019	-	F	-	Canada	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00438840	Pat6	PubMed: Yazidi 2019	-	M	-	Canada	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00438842	Pat8	PubMed: Yazidi 2019	-	M	-	Canada	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00438843	Pat9	PubMed: Yazidi 2019	-	M	-	Canada	-	-	-	-	-	HLD	-	1	1	Johan den Dunnen
00438845	Pat11	PubMed: Yazidi 2019	-	F	-	Canada	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00438848	Pat14	PubMed: Yazidi 2019	-	F	-	Canada	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00438849	Pat15	PubMed: Yazidi 2019	-	M	-	Canada	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen
00438850	Pat16	PubMed: Yazidi 2019	-	F	-	Canada	-	-	-	-	-	HLD	-	2	1	Johan den Dunnen

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Global Variome shared LOVD

POLR3A (polymerase (RNA) III (DNA directed) polypep...)