All individuals with variants in gene CHRND

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.

47 entries on 1 page. Showing entries 1 - 47.

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
00035221	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035222	-	-	-	-	-	Germany	-	-	-	-	-	?	status post adenovirus enzephalitis, relapsing apnoea, hypertelorism	1	1	Andreas Laner
00035223	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	myasthenia	1	1	Andreas Laner
00035224	-	-	-	-	-	Germany	-	-	-	-	-	?	Floppy infant, relapsing apnoea neonatal; family history: consanguine of the parents (Arab Emirates): pre-result normal	1	1	Andreas Laner
00035225	-	-	-	-	-	Germany	-	-	-	-	-	?	targeted analysis myasthenic syndrome?	1	1	Andreas Laner
00035226	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035227	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	muscular hypotonia, developmental delay	1	1	Andreas Laner
00152961	FamPat1	PubMed: Sine 1995	3-generation family, 5 affected (2F, 3M)	F;M	-	Germany	-	-	-	-	-	CMS	-	1	5	Johan den Dunnen
00152962	-	PubMed: Engel 1996	3-generation family, affected girl/mother/grandmother	F	-	United States	-	>30y	-	-	-	CMS	8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood	1	3	Johan den Dunnen
00152984	-	PubMed: Engel 1996	2-generation family, affected boy	M	-	United States	-	>16y	-	-	-	CMS	7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy	4	1	Johan den Dunnen
00152986	-	PubMed: Ohno 1997	3-generation family, affected brother/sister	-	-	-	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00152987	-	PubMed: Ohno 1997	2-generation family, 2 affected brothers	M	-	-	-	-	-	-	-	CMS	-	1	2	Johan den Dunnen
00152988	-	PubMed: Ohno 1999	2-generation family, affected brother/sister, unaffected carrier parents	M	-	Turkey	-	>12y	-	-	-	CMS	developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness	2	1	Johan den Dunnen
00152989	-	PubMed: Ohno 1999	2-generation family, affected brother/sister, unaffected carrier parents	F	-	Turkey	-	>14y	-	-	-	CMS	myasthenic symptoms; 14y normal	2	1	Johan den Dunnen
00152990	-	PubMed: Ohno 1999	unaffected carrier parents and brother	-	-	Turkey	-	-	-	-	-	-	-	1	3	Johan den Dunnen
00152994	-	PubMed: Sine 1995	-	-	-	Germany	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153063	-	PubMed: Engel 1996	3-generation family, affected girl	F	-	United States	-	>19y	-	-	-	CMS	myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli	3	1	Johan den Dunnen
00153064	-	PubMed: Brownlow 2001	2-generation family, unaffected carrier parents	F	-	United Kingdom (Great Britain)	-	>6y	-	-	-	CMS	-	2	1	Johan den Dunnen
00153065	-	PubMed: Gomez 2002	-	M	-	United States	-	>15y	-	-	-	CMS	9y-loss ambulation	1	1	Johan den Dunnen
00153066	-	PubMed: Muller 2006	2-generation family, unaffected carrier parents and brother	M	-	Germany	-	>7y	-	-	-	CMS	post-partum difficulties feeding, sucking with frequent chokes; neonatal left-side eyelid ptosis, facial weakness, daytime-dependent abnormal fatigue, muscular hypotonia; motor development delayed	2	1	Angela Abicht
00153067	-	PubMed: Michalk 2008	2-generation family, 4 affecteds	-	-	Germany	-	-	-	-	-	FADS	-	2	4	Johan den Dunnen
00153068	-	PubMed: Michalk 2008	5-generation family, 2 affecteds	-	-	Turkey	-	-	-	-	-	FADS	-	2	2	Johan den Dunnen
00153069	-	PubMed: Shen 2008	similarly affected sibling died 11m	F	-	United States	-	>20y	-	-	-	CMS	no anti-AChR antibodies	3	1	Johan den Dunnen
00153070	-	PubMed: Shen 2002	4-generation family, unaffected carrier parents/3 siblings	M	-	Saudi Arabia	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153071	-	PubMed: Chaouch 2011	-	-	-	Sweden	-	-	-	-	-	CMS	-	1	1	Angela Abicht
00153072	-	-	homozygous in 3 affected siblings	-	-	Germany	-	-	-	-	-	CMS	early onset severe CMS with contractures	2	3	Angela Abicht
00153073	-	PubMed: Engel 1996	-	-	-	United States	-	-	-	-	-	CMS	-	1	10	Johan den Dunnen
00153074	-	PubMed: Shen 2002	2 cousins 3-generation family, unaffected carrier parents/4 siblings	M	-	Saudi Arabia	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153075	-	PubMed: Shen 2002	2 cousins 3-generation family, unaffected carrier parents/4 siblings	F	-	Saudi Arabia	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153076	-	PubMed: Engel 1996	2-generation family, unaffected mother/sister of patient	F	-	United States	-	-	-	-	-	-	-	1	2	Johan den Dunnen
00153077	-	PubMed: Engel 1996	-	-	-	-	-	-	-	-	-	-	-	1	30	Johan den Dunnen
00153078	-	PubMed: Shen 2002, OMIM:var0002	3-families, 13 unaffected family members patients	-	-	Saudi Arabia	-	-	-	-	-	CMS	-	1	13	Johan den Dunnen
00153079	-	PubMed: Ohno 1997, PubMed: Ohno 1999	-	-	-	Turkey	-	-	-	-	-	-	-	1	54	Johan den Dunnen
00153080	-	PubMed: Michalk 2008	5-generation family, unaffected carrier parents	-	yes	Turkey	-	-	-	-	-	-	-	1	2	Johan den Dunnen
00153081	-	PubMed: Michalk 2008, OMIM:var0006	2-generation family, unaffected carrier parent	-	-	Germany	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00153082	-	PubMed: Michalk 2008, OMIM:var0007	2-generation family, unaffected carrier parent	-	-	Germany	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00153083	-	-	-	M	-	United States	white	-	-	-	-	CMS	bilateral ptosis, strabismus, hyperlordosis, foot drop.	1	1	Tom Winder
00153084	-	-	-	M	-	United States	-	-	-	-	-	CMS	profound muscle weakness; ventilator-dependent since birth; improves with Mestinin	1	1	Tom Winder
00174819	Pat205	PubMed: Fichna 2018	-	F	-	Poland	-	-	-	-	-	LGMD	onset overt symptoms adulthood; CPK raised 4x; asymmetric limb-girdle weakness; transient respiratory failure after general anesthesia; generalized muscle atrophy, calf atrophy; no clear dystrophic features in biopsy; ambulation preserved	1	1	Johan den Dunnen
00248336	Fam10	PubMed: Todd 2015	-	-	-	-	-	-	-	-	-	NMD	see paper; …	2	1	Johan den Dunnen
00292636	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292637	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00292638	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00292639	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	43	Mohammed Faruq
00304796	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00314139	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00399085	P167	PubMed: Gonzalez-Quereda 2020	patient	F	-	Spain	-	-	-	-	-	NMD	muscle biopsy myopathic changes	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

CHRND (cholinergic receptor, nicotinic, delta (muscle))