All individuals with variants in gene CHD7

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.

90 entries on 1 page. Showing entries 1 - 90.

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
00050698	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	intellectual disability, membranous subvalvular aortic stenosis, cleft palate, patent ductus arteriosus, pierre-robin sequence	1	1	Johan den Dunnen
00050709	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	choanal atresia, bilateral conductive hearing impairment, pulmonary artery stenosis	1	1	Johan den Dunnen
00051495	-	under review	-	M	no	Australia	white	-	-	-	-	CHARGE	prominent scapulae/shoulder girdle weakness, mild learning difficulties, subtle dysmorphic features including small ears and hockey stick palmar creases, aplasia of the superior semicircular canal bilaterally, dysplastic horizontal canals	1	1	Sandra Cooper
00080856	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	CHARGE	CHARGE syndrome (OMIM:214800)	1	1	Daniel Trujillano
00104945	-	-	-	-	yes	Israel	Jewish	-	-	-	-	ANI	-	1	2	Anna Alkelai
00104949	-	-	-	M	?	Israel	Jewish	-	-	-	-	ANI	-	1	1	Anna Alkelai
00210054	RP	PubMed: Vadgama 2019, Journal: Vadgama 2019	-	M	no	-	-	-	-	-	-	autism	-	1	1	Nirmal Vadgama
00231450	Pat69	PubMed: Eggers 2016	-	-	-	-	-	-	-	-	-	DSD	disorder of sex development	1	1	Johan den Dunnen
00231453	Pat73	PubMed: Eggers 2016	-	M	-	-	-	-	-	-	-	DSD	disorder of sex development	1	1	Johan den Dunnen
00231499	Pat169	PubMed: Eggers 2016	-	M	-	-	-	-	-	-	-	DSD	disorder of sex development	1	1	Johan den Dunnen
00231533	Pat259	PubMed: Eggers 2016	-	M	-	-	-	-	-	-	-	DSD	hypospadias	3	1	Johan den Dunnen
00231560	Pat251	PubMed: Eggers 2016	-	-	-	-	-	-	-	-	-	DSD	hypospadias	1	1	Johan den Dunnen
00267237	-	-	-	-	-	-	-	-	-	-	-	CHARGE	-	1	1	Ah Reum Kim
00294650	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	12	Mohammed Faruq
00294651	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00294652	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	189	Mohammed Faruq
00294653	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295325	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	22	Mohammed Faruq
00295448	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00302671	-	-	-	M	-	Germany	-	-	-	-	-	?	Abnormality of cerebral artery (HP:0009145); Hypoplastic aortic arch (HP:0012304); Defect in the atrial septum (HP:0001631); Cleft palate (HP:0000175); Patent ductus arteriosus (HP:0001643); Global developmental delay (HP:0001263)	1	1	Andreas Laner
00302979	Pat24	PubMed: Helbig 2016	-	-	-	United States	-	-	-	-	-	seizures	Unclassified epilepsy; age onset childhood	1	1	Johan den Dunnen
00303637	Pat4	PubMed: Biard 2021	Prenatal	-	-	Belgium	-	-	-	-	-	CHARGE	Choanal atresia (HP:0000453) Abnormality of the face (HP:0000271) Oral cleft (HP:0000202) Abnormal ear morphology (HP:0031703)	1	1	Valerie Benoit
00303638	Pat5	PubMed: Biard 2021	-	-	-	Belgium	-	-	-	-	-	CHARGE	Abnormal heart morphology (HP:0001627) Choanal atresia (HP:0000453) Abnormality of brain morphology (HP:0012443) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703)	1	1	Valerie Benoit
00303639	Pat6	PubMed: Biard 2021	-	-	-	Belgium	-	-	-	-	-	CHARGE	Abnormal heart morphology (HP:0001627) Choanal atresia (HP:0000453) Intrauterine growth retardation (HP:0001511) Abnormality of brain morphology (HP:0012443) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) Polyhydramnios (HP:0001561)	1	1	Valerie Benoit
00303640	Pat3	PubMed: Biard 2021	-	F	-	Belgium	-	-	-	-	-	CHARGE	Abnormal heart morphology (HP:0001627) Choanal atresia (HP:0000453) Abnormality of the genital system (HP:0000078) Abnormality of the kidney (HP:0000077) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703)	1	1	Valerie Benoit
00303641	Pat7	PubMed: Biard 2021	-	M	-	Belgium	-	-	-	-	-	CHARGE	Abnormal heart morphology (HP:0001627) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) Polyhydramnios (HP:0001561)	1	1	Valerie Benoit
00304128	Pat2	PubMed: Biard 2021	-	M	-	Belgium	-	-	-	-	-	CHARGE	Abnormal heart morphology (HP:0001627) Abnormality of the genital system (HP:0000078) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) Polyhydramnios (HP:0001561)	1	1	Valerie Benoit
00304129	Pat10	PubMed: Biard 2021	-	-	-	Belgium	-	-	-	-	-	CHARGE	Abnormal heart morphology (HP:0001627) Choanal atresia (HP:0000453) Abnormality of the face (HP:0000271) Abnormal ear morphology (HP:0031703) Polyhydramnios (HP:0001561)	1	1	Valerie Benoit
00305200	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00306201	99	-	-	M	-	China	-	-	-	-	-	CHARGE	-	1	1	Sha Hong
00306248	-	-	-	F	-	-	-	-	-	-	-	?	Cleft palate (HP:0000175); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Postnatal microcephaly (HP:0005484); Visual impairment (HP:0000505); Hearing impairment (HP:0000365)	1	1	IMGAG
00307727	UK10K_FINDWGA5411365	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307728	UK10K_FINDWGA5411541	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307791	UK10K_FINDWGA5411437	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00315036	GDB1154	PubMed: Squeo 2020	analysis 263 cases chromatin-related disorder	-	-	Italy	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00315042	GDB1406	PubMed: Squeo 2020	analysis 263 cases chromatin-related disorder	-	-	Italy	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00316112	K160	PubMed: Heidet 2017	-	-	-	France	-	-	-	-	-	CAKUT	unilateral kidney agenesis; deafness, branchial defect, colobomatous microphtalmia	1	1	Johan den Dunnen
00324289	patient	PubMed: Granadillo 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Mexico	Hispanic	-	-	-	-	CHARGE	see paper; ...	1	1	Johan den Dunnen
00328526	FamJSPat001/002	PubMed: Patel 2015	2-generation family, affectedsister/brother, unaffected parents	F;M	-	United States	Hispanic	-	-	-	-	deafness	-	1	1	LOVD
00334297	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334302	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334308	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334314	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334325	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334360	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334375	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334403	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334405	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334406	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334479	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334485	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334487	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334842	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334845	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334848	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334854	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334857	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334918	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00334931	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00335024	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00335026	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00335030	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00335043	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00372516	KS1	PubMed: Chen 2015	3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives	F;M	-	China	Uyghur	-	-	-	-	HL	see paper; ...	1	4	Johan den Dunnen
00374246	S-3110	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Features suggestive of CHARGE syndrome	1	1	Johan den Dunnen
00374247	S-3773	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Features suggestive of CHARGE syndrome	1	1	Johan den Dunnen
00374689	S-3306	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00377146	-	-	-	?	-	-	-	-	-	-	-	?	Abnormality of prenatal development or birth (HP:0001197); Ventricular septal defect (HP:0001629); Abnormal cardiac ventricle morphology (HP:0001713); Tricuspid regurgitation (HP:0005180); Increased nuchal translucency (HP:0010880)	1	1	IMGAG
00391783	129P	-	-	M	no	Spain	-	-	-	-	-	CHARGE	-	1	1	Alejandro Brea-Fernández
00415190	3	PubMed: Matias-Perez 2018	CHD7 family, proband	F	-	-	Mexican	-	-	-	-	retinal disease	microphthalmia right eye; anophthalmia left eye	1	1	LOVD
00415191	3's mother	PubMed: Matias-Perez 2018	CHD7 family, proband's mother	F	-	-	Mexican	-	-	-	-	retinal disease	unaffected (asymptomatic?)	1	1	LOVD
00415192	3's brother	PubMed: Matias-Perez 2018	CHD7 family, proband's brother	M	-	-	Mexican	-	-	-	-	retinal disease	microphthalmia right eye	1	1	LOVD
00415196	6	PubMed: Matias-Perez 2018	CHD7 proband 2, parental DNA not available	F	-	-	Mexican	-	-	-	-	retinal disease	bilateral microphthalmia	1	1	LOVD
00416378	204770	-	-	F	no	Germany	-	-	-	-	-	CHARGE	Abnormal fetal cardiovascular morphology, Hypoplastic left heart, Aortic valve stenosis, Congenital malformation of the left heart, Abnormal fetal morphology	1	1	Andreas Laner
00419523	8122	PubMed: Marinakis 2021	-	F	-	Greece	-	-	-	-	-	?	-	1	1	Jan Traeger-Synodinos
00424970	Pat1	PubMed: Biard 2021	-	F	-	Belgium	-	-	-	-	-	CHARGE	-	1	1	Johan den Dunnen
00424971	Pat8	PubMed: Biard 2021	-	M	-	Belgium	-	-	-	-	-	CHARGE	-	1	1	Johan den Dunnen
00424972	Pat9	PubMed: Biard 2021	-	F	-	Belgium	-	-	-	-	-	CHARGE	-	1	1	Johan den Dunnen
00428010	A137	PubMed: Bournazos 2022	family, 1 affected	-	-	Australia	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00430229	20D2602992	-	-	M	no	China	East Asia	-	-	-	-	HH5	Micropenis; cleft lip/palate; hearing loss; testicular hypotrophy; aplasia of bilateral olfactory-bulb	1	1	Dongye He
00435239	260515	-	-	F	no	Germany	-	-	-	-	-	CHARGE	Intellectual disability, mild, Hip dysplasia, Macrocephaly, Gait disturbance, Motor delay, Delayed speech and language development	1	1	Andreas Laner
00435364	232779	-	-	M	no	Germany	-	-	-	-	-	CHARGE	Abnormality of the genitourinary system, Prelingual sensorineural hearing impairment, Preaxial hand polydactyly, Global developmental delay, Plagiocephaly, Atrial septal defect, Cranial nerve paralysis, Infantile muscular hypotonia	1	1	Andreas Laner
00438302	Pat20	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0000364 hearing abnormality; HP:0001626 abnormality of the cardiovascular system	1	1	Johan den Dunnen
00440395	PED3005.1	PubMed: Nambot 2018	-	-	-	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00449773	-	-	-	F	-	- (not applicable)	white	-	-	-	-	CHARGE	HP:0000453, HP:0001627	1	1	Marketa Wayhelova
00454674	-	-	-	F	-	- (not applicable)	white	-	-	-	-	CHARGE	HP:0000104, HP:0001508, HP:0000271, HP:0004484	1	1	Marketa Wayhelova
00455679	-	-	-	F	-	- (not applicable)	white	-	-	-	-	DD	HP:0000365, HP:0001263, HP:0000271	1	1	Marketa Wayhelova
00456088	-	-	-	F	-	- (not applicable)	white	-	-	-	-	CHARGE	HP:0200138, HP:0009603, HP:0000377, HP:0001643, HP:0012020, HP:0002901, HP:0010515	1	1	Marketa Wayhelova
00462291	CONGE-79	PubMed: Boissel 2017	analysis 101 stillborn fetuses with severe prenatal anoalies	-	-	Canada	-	0d	-	-	-	?	20gw-persistence left superior vena cava, left heart hypoplasia, right lung with two lobes, type A esophageal atresia; vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities	1	1	Johan den Dunnen
00464285	323529	-	prenatal trio exome at 20+5	?	no	Germany	-	-	-	-	-	CHARGE	Cleft lip and palate in prenatal sonography	1	1	Andreas Laner

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Global Variome shared LOVD

CHD7 (chromodomain helicase DNA binding protein 7)