All individuals with variants in gene CC2D2A

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.

188 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
00028922	1-34 Pat11	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	2	1	Sanne Savelberg
00033091	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00033119	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00050650	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected sibling(s)	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	poor head control, global developmental delay, cerebellar atrophy, cerebral palsy, severe visual impairment, feeding difficulties in infancy, scoliosis, microcephaly, recurrent respiratory infections, eczema	1	2	Johan den Dunnen
00056050	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MKS1	Meckel-Gruber syndrome	2	1	Christopher Watson
00056051	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MKS1	Meckel-Gruber syndrome	1	1	Christopher Watson
00081080	-	PubMed: Trujillano 2017	no information from parents	-	-	-	-	-	-	-	-	COACH	COACH syndrome (OMIM:216360)	1	1	Daniel Trujillano
00225714	23169490-FamMKS_F3	PubMed: Shaheen 2013	-	-	-	Saudi Arabia	-	-	-	-	-	MKS	see paper; ...	1	1	Johan den Dunnen
00225715	23169490-FamMKS_F5	PubMed: Shaheen 2013	-	-	-	Saudi Arabia	-	-	-	-	-	MKS	see paper; ...	1	1	Johan den Dunnen
00225716	23169490-FamMKS_F8	PubMed: Shaheen 2013	-	-	-	Saudi Arabia	-	-	-	-	-	MKS	see paper; ...	1	1	Johan den Dunnen
00225717	23169490-FamMKS_F10	PubMed: Shaheen 2013	-	-	-	Saudi Arabia	-	-	-	-	-	MKS	see paper; ...	1	1	Johan den Dunnen
00225718	23169490-FamMKS_F12	PubMed: Shaheen 2013	-	-	-	Saudi Arabia	-	-	-	-	-	MKS	see paper; ...	1	1	Johan den Dunnen
00225719	23169490-FamMKS_F14	PubMed: Shaheen 2013	-	-	-	Saudi Arabia	-	-	-	-	-	MKS	see pape; ...	1	1	Johan den Dunnen
00225726	19777577-FamJBS1PatJBS-006	PubMed: Mougou-Zerelli 2009	family, 1 affected	-	no	Algeria	-	-	-	-	-	JBTS	cystic kidneys no characteristic of Meckel syndrome; no liver anomalies; oculomotor apraxia, myopia; ataxia, hypotonia, cerebellar vemis agenesis, mental retardation; no polydactily	1	1	Johan den Dunnen
00225727	19777577-FamJBS2PatJBS-008	PubMed: Mougou-Zerelli 2009	family, 1 affected	-	no	France	-	-	-	-	-	JBTS	cystic kidneys no characteristic of Meckel syndrome; no liver anomalies; oculomotor apraxia, abnormal eye movements, optic disc; ataxia, hypotonia, mental retardation, molar tooth sign; no polydactily	2	1	Johan den Dunnen
00225728	19777577-FamMKS1PatMKS-84D	PubMed: Mougou-Zerelli 2009	family, 4 fetuses	-	yes	Algeria	-	<0d	-	-	-	MKS	fetus 21w; cystic kidneys characteristic of Meckel syndrome; hepatic fibrosis, bile duct proliferation liver; occipital meningocele, Dandy-Walker; no polydactily; left heart hypoplasia, femoral bowing	1	4	Johan den Dunnen
00225729	19777577-FamMKS1PatMKS-84A	PubMed: Mougou-Zerelli 2009	-	-	yes	Algeria	-	<0d	-	-	-	MKS	fetus 33w; cystic kidneys characteristic of Meckel syndrome; ; no liver anomalies; Dandy-Walker; no polydactily	1	1	Johan den Dunnen
00225730	19777577-FamMKS1PatMKS-84B	PubMed: Mougou-Zerelli 2009	-	-	yes	Algeria	-	<0d	-	-	-	MKS	fetus 21w; cystic kidneys characteristic of Meckel syndrome; no liver anomalies; coloboma; occipital defect; no polydactily	1	1	Johan den Dunnen
00225731	19777577-FamMKS1PatMKS-84C	PubMed: Mougou-Zerelli 2009	-	-	yes	Algeria	-	<0d	-	-	-	MKS	fetus 21w; cystic kidneys characteristic of Meckel syndrome; retinal cyst; occipital meningocele; arhinencephaly; polydactyly upper limbs; epididymal cysts	1	1	Johan den Dunnen
00225732	19777577-FamMKS2PatMKS-54	PubMed: Mougou-Zerelli 2009	family, 1 fetus	-	yes	Mauritania	-	<0d	-	-	-	MKS	fetus 17.5w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; optic nerve dysplasia; occipital encephalocele; polydactily upper/lower limbs; intrauterine growth retardation, cleft palate	1	1	Johan den Dunnen
00225733	19777577-FamMKS3PatMKS-160	PubMed: Mougou-Zerelli 2009	family, 1 fetus	-	yes	France	-	<0d	-	-	-	MKS	fetus 23w; cystic kidneys characteristic of Meckel syndrome; occipital encephalocele; polydactily upper limbs	1	1	Johan den Dunnen
00225734	19777577-FamMKS4PatMKS-410	PubMed: Mougou-Zerelli 2009	family, 3 fetuses	-	yes	Turkey	-	<0d	-	-	-	MKS	fetus 23w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; no ocular anomalies; occipital encephalocele, microcephaly; polydactily upper/lower limbs; cleft palate, bifide tongue, epididymal/pancreatic cysts	1	3	Johan den Dunnen
00225735	19777577-FamMKS4PatMKS-413	PubMed: Mougou-Zerelli 2009	-	-	yes	Turkey	-	<0d	-	-	-	MKS	fetus 11.5w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital encephalocele, microcephaly; polydactily upper/lower limbs	1	1	Johan den Dunnen
00225736	19777577-FamMKS4PatMKS-414	PubMed: Mougou-Zerelli 2009	-	-	yes	Turkey	-	<0d	-	-	-	MKS	fetus 12.5w; cystic kidneys characteristic of Meckel syndrome; coloboma; occipital encephalocele, microcephaly; polydactily upper/lower limbs; cleft palate	1	1	Johan den Dunnen
00225737	19777577-FamMKS5PatMKS-977	PubMed: Mougou-Zerelli 2009	family, 1 fetus	-	yes	Turkey	-	<0d	-	-	-	MKS	fetus 34w; cystic kidneys; occipital encephalocele; no polydactily	1	1	Johan den Dunnen
00225738	19777577-FamMKS6PatMKS-010	PubMed: Mougou-Zerelli 2009	family, 2 fetuses	-	no	Guadeloupe	-	<0d	-	-	-	MKS	fetus 19w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele, cerebellar vemis agenesis; polydactily upper limbs; bell chest	1	2	Johan den Dunnen
00225739	19777577-FamMKS6PatMKS-011	PubMed: Mougou-Zerelli 2009	-	-	no	Guadeloupe	-	<0d	-	-	-	MKS	fetus 14w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily upper limbs	1	1	Johan den Dunnen
00225740	19777577-FamMKS7PatMKS-142	PubMed: Mougou-Zerelli 2009	family, 2 fetuses	-	no	France	-	<0d	-	-	-	MKS	fetus 25w; cystic kidneys characteristic of Meckel syndrome; occipital meningocele, arhinencephaly, corpus callosum agenesis, cerebellar vemis agenesis; polydactily upper/lower limbs; bicornuate uterus	2	2	Johan den Dunnen
00225741	19777577-FamMKS7PatMKS-143	PubMed: Mougou-Zerelli 2009	-	-	no	France	-	<0d	-	-	-	MKS	fetus 25w; cystic kidneys characteristic of Meckel syndrome; occipital meningocele, arhinencephaly, corpus callosum agenesis; polydactily upper/lower limbs; cleft palate, micropenis, femoral bowing	2	1	Johan den Dunnen
00225742	19777577-FamMKS8PatMKS-982	PubMed: Mougou-Zerelli 2009	family, 1 fetus	-	no	France	-	<0d	-	-	-	MKS	fetus 13w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; vVertex M, anencephaly; polydactily upper/lower limbs; cleft palate	2	1	Johan den Dunnen
00225743	19777577-FamMKS9PatMKS-362	PubMed: Mougou-Zerelli 2009	family, 4 fetuses	-	no	France	-	<0d	-	-	-	MKS	fetus 20w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily upper limbs	2	4	Johan den Dunnen
00225744	19777577-FamMKS9PatMKS-363	PubMed: Mougou-Zerelli 2009	-	-	no	France	-	<0d	-	-	-	MKS	fetus 13w; occipital meningocele	2	1	Johan den Dunnen
00225745	19777577-FamMKS9PatMKS-364	PubMed: Mougou-Zerelli 2009	-	-	no	France	-	<0d	-	-	-	MKS	fetus 13w; polydactily upper limbs	2	1	Johan den Dunnen
00225746	19777577-FamMKS9PatMKS-365	PubMed: Mougou-Zerelli 2009	-	-	no	France	-	<0d	-	-	-	MKS	fetus 16w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; occipital meningocele; polydactily	2	1	Johan den Dunnen
00225747	19777577-FamMKS10PatMKS-987	PubMed: Mougou-Zerelli 2009	family, 1 fetus	-	no	-	-	<0d	-	-	-	MKS	fetus 15w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver, hepatic fibrosis; occipital encephalocele, corpus callosum agenesis, arhinencephaly, cerebellar vemis agenesis, hypothalamic hamrtoma; polydactily upper/lower limbs; epididymal cysts	1	1	Johan den Dunnen
00225748	19777577-FamMKS11PatMKS-692	PubMed: Mougou-Zerelli 2009	family, 1 fetus	-	no	United States	-	<0d	-	-	-	MKS	fetus 20w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; Dandy-Walker; polydactily upper/lower limbs; hypospadias, ulnar bowing, accessory spleen, gonadal dysgenesis	1	1	Johan den Dunnen
00269435	-	-	-	-	-	-	-	-	-	-	-	JBTS	-	2	1	Jinu Han
00289350	-	-	-	M	-	-	-	-	-	-	-	?	Intellectual disability (HP:0001249); Neurodevelopmental abnormality (HP:0012759); Abnormal facial shape (HP:0001999); Abnormality of the face (HP:0000271)	2	1	Andreas Laner
00293561	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00293562	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00293563	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	20	Mohammed Faruq
00293564	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	177	Mohammed Faruq
00293565	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	16	Mohammed Faruq
00293568	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00293569	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00293570	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00295311	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00296863	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of central motor function (HP:0011442); Neurodevelopmental abnormality (HP:0012759); Dysmetria (HP:0001310); Specific learning disability (HP:0001328); Dysgenesis of the cerebellar vermis (HP:0002195); Abnormality of the cerebellar vermis (HP:0002334); Abnormality of midbrain morphology (HP:0002418); Molar tooth sign on MRI (HP:0002419); Abnormality of eye movement (HP:0000496)	1	1	Andreas Laner
00304986	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00327463	M69 II-1	Doucette 2021, Submitted	Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern.	F	-	Canada	Middle eastern origin	-	-	Yes	-	retinal degeneration	Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105) Ocular coherence tomography (OCT): Atrophy of outer retina. Bruch's membrane is absent in the central fovea. Electroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)	1	2	Lance P Doucette
00331346	12DG1875	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Hydrocephalus, Occipital encephalocele, Polycystic kidney dysplasia	1	1	LOVD
00331347	13DG0083	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Breathing dysregulation, Generalized hypotonia, Abnormal facial shape, Nystagmus, Glob No	1	1	LOVD
00331348	15DG1758	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Hydrocephalus, Failure to thrive, Renal insufficiency, Global developmental delay, Molar t No	1	1	LOVD
00335962	-	PubMed: Sergouniotis 2016	analysis 486 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	21	LOVD
00363395	HM608	PubMed: Sun 2015	proband	-	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00363402	control	PubMed: Sun 2015	healthy control	-	-	China	-	-	-	-	-	Healthy/Control	-	1	2	LOVD
00363545	Fam379Pat978,379	PubMed: Srour 2015	-	M	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363546	Fam385Pat994,385	PubMed: Srour 2015	family, 2 affected	M	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	2	LOVD
00363547	Fam385Pat1303,385	PubMed: Srour 2015	relative	F	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363548	Fam447Pat1223,447	PubMed: Srour 2015	-	M	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363549	Fam415Pat1123,415	PubMed: Srour 2015	-	F	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363550	Fam473Pat1295,473	PubMed: Srour 2015	-	F	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363551	Fam484Pat1332,484	PubMed: Srour 2015	-	M	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363552	Fam488Pat1342,488	PubMed: Srour 2015	family, 2 affected	M	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	2	LOVD
00363553	Fam488Pat1343,488	PubMed: Srour 2015	relative	M	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363554	Fam492Pat1356,492	PubMed: Srour 2015	-	F	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363555	Fam572Pat1610,572	PubMed: Srour 2015	-	F	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372184	UW036-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372185	UW041-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372186	UW046-1	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372187	UW046-2	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372188	UW047-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372189	UW048-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372190	UW049-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372191	UW050-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372192	UW050-6	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372193	UW075-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372194	UW076-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372195	UW079-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372196	UW079-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372197	UW080-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372198	UW081-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372199	UW088-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372200	UW088-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372201	UW102-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372202	UW104-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372203	UW204-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372204	UW260-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372205	UW262-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372206	UW265-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372207	UW265-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372208	UW267-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372209	UW267-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372210	UW271-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372211	UW275-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372212	UW287-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372213	UW288-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372214	UW296-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372215	UW296-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372216	UW301-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD

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Global Variome shared LOVD

CC2D2A (coiled-coil and C2 domain containing 2A)