All individuals with variants in gene ATN1

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.

84 entries on 1 page. Showing entries 1 - 84.

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
00104496	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset DRPLA	1	1	Johan den Dunnen
00104497	07824105-Fam2Pat10	PubMed: Komure 1995	3-generation family, 6 affecteds (3F, 3M), grandfather	-	-	Japan	-	-	-	-	-	DRPLA	-	1	6	Johan den Dunnen
00104498	07824105-Fam2Pat11	PubMed: Komure 1995	son Fam2Pat11	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00104499	07824105-Fam2Pat12	PubMed: Komure 1995	grandson Fam2Pat12	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00104500	07824105-Pat24	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	ID	mental retardation, no DRPLA symptoms	1	1	Johan den Dunnen
00104501	07824105-Pat38	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	46y	-	-	-	DRPLA	35y-cerebellar ataxia,choreoathetosis, myoclonus; 46y-deceased	1	1	Johan den Dunnen
00104502	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104503	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104504	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104505	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104506	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104507	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104508	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104509	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104510	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104511	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104512	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104513	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104514	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104515	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104516	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104517	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104518	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	adult onset	1	1	Johan den Dunnen
00104519	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104520	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104521	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104522	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104523	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104524	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104525	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104526	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104527	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104528	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104529	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104530	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104531	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104532	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104533	07824105-Pat	PubMed: Komure 1995	38 affecteds from 12 families	-	-	Japan	-	-	-	-	-	DRPLA	juvenile onset	1	1	Johan den Dunnen
00104534	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00104535	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	10	Johan den Dunnen
00104536	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00104537	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00104538	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00104539	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	8	Johan den Dunnen
00104540	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	7	Johan den Dunnen
00104541	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	7	Johan den Dunnen
00104542	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	9	Johan den Dunnen
00104543	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00104544	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00104545	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00104546	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00104547	07824105-con	PubMed: Komure 1995	control chromosomes	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00227927	Pat1	PubMed: Palmer 2019, Journal: Palmer 2019	-	M	-	Argentina	-	-	-	-	-	ID	see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies	1	1	Johan den Dunnen
00227928	Pat2	PubMed: Palmer 2019, Journal: Palmer 2019	-	M	-	United States	Hispanic	-	-	-	-	ID	see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies	1	1	Johan den Dunnen
00227929	Pat3	PubMed: Palmer 2019, Journal: Palmer 2019	-	F	-	United States	Hispanic	-	-	-	-	ID	see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies	1	1	Johan den Dunnen
00227930	Pat4	PubMed: Palmer 2019, Journal: Palmer 2019	-	F	-	United States	Hispanic	-	-	-	-	ID	see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies	1	1	Johan den Dunnen
00227931	Pat5	PubMed: Palmer 2019, Journal: Palmer 2019	-	F	-	Saudi Arabia	-	-	-	-	-	ID	see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies	1	1	Johan den Dunnen
00227932	Pat6	PubMed: Palmer 2019, Journal: Palmer 2019	-	F	-	Mexico	-	-	-	-	-	ID	see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies	1	1	Johan den Dunnen
00227933	Pat7	PubMed: Palmer 2019, Journal: Palmer 2019	-	F	-	Australia	-	-	-	-	-	ID	see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies	1	1	Johan den Dunnen
00227934	Pat8	PubMed: Palmer 2019, Journal: Palmer 2019	-	F	-	France	-	-	-	-	-	ID	see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies	1	1	Johan den Dunnen
00262063	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262064	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262065	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262066	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262067	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262068	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262069	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262070	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262071	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262072	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262073	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262074	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262075	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262076	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	progressive myoclonus epilepsy	1	1	Johan den Dunnen
00262077	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262078	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262079	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262080	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262081	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00262082	patient	PubMed: Koide 1994	-	-	-	Japan	-	-	-	-	-	DRPLA	-	1	1	Johan den Dunnen
00314895	Trio80	PubMed: Zhu 2015	-	F	-	United States	-	-	-	-	-	?	Failure to thrive, hearing loss, abnormal cochlea structure, microcephaly.	1	1	Johan den Dunnen
00327547	family	PubMed: Beck 2014	2-generation family, 5 affected (2F, 3M)	F;M	yes	Iraq	-	-	-	-	-	retinal disease	see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease	2	5	Johan den Dunnen
00447962	FamPatII1	PubMed: Chia 2018	2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs	M	yes	Jordan	-	-	-	-	-	NDD	see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies	2	4	Johan den Dunnen
00447963	FamPatII4	PubMed: Chia 2018	affected sister	F	yes	Jordan	-	-	-	-	-	NDD	see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies	2	1	Johan den Dunnen

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Global Variome shared LOVD

ATN1 (atrophin 1)