Disease #00029 (HDBSCC (hemorrhagic destruction of the brain, subependymal calcification, cataracts (HDBSCC)), OMIM:613730)

Official abbreviation	HDBSCC
Name	hemorrhagic destruction of the brain, subependymal calcification, cataracts (HDBSCC)
OMIM ID	613730
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	4
Phenotype entries for this disease	-
Associated with 1 gene	JAM3
Associated tissues	-
Disease features	onset neonatal; microcephaly; cataracts; no facial dysmorphisms; severe developmental delay; seizures; spasticity; hypotonia; intracranial calcifications; intracranial hemorrhage; ventriculomegaly; corpus callosum anomalies; hepatomegaly; rare renal anomalies
Remarks	-
Date created	2012-08-22 09:58:22 +02:00 (CEST)
Date last edited	2023-03-31 19:40:09 +02:00 (CEST)

Individuals

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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
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Andorra
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Angola
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Anguilla
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Armenia
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Aruba
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Australia
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Austria
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Bahrain
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bhutan
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Bolivia
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Bosnia and Herzegovina
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
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Bulgaria
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Burkina Faso
(Burkina Faso)
Burundi
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Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
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Cayman Islands
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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
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Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
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Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
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Cyprus
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Czech Republic
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Denmark
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
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England
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Equatorial Guinea
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Estonia
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Ethiopia
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Falkland Islands (Malvinas)
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
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Guam
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Guatemala
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Guiana, French
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Guinea
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Guinea-Bissau
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Guyana
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
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Ireland
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Israel
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
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Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
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Latvia
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Martinique
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Morocco
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Myanmar
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New Zealand
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Norway
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Oman
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Pakistan
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Palau
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Panama
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Paraguay
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Peru
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Philippines
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Pitcairn
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
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Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
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Solomon Islands
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Somalia
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South Africa
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Southern Territories, French
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Soviet Union (former)
(Soviet Union (former))
Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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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
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Uruguay
(Uruguay)
US Minor Outlying Islands
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Uzbekistan
(Uzbekistan)
Vanuatu
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Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
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Viet Nam
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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

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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
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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4 entries on 1 page. Showing entries 1 - 4.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00000235	-	PubMed: Mochida 2010	8-generation family, 8 affecteds	F	yes	United Arab Emirates	Baluchistan	-	-	-	-	HDBSCC	-	JAM3	JAM3	1	8	Nadia Nakawi
00000236	-	-	-	F	yes	Turkey	-	-	-	-	-	HDBSCC	-	JAM3	JAM3	1	1	Nadia Nakawi
00000237	-	-	-	M	no	Afghanistan	-	-	-	-	-	HDBSCC	-	JAM3	JAM3	1	2	Nadia Nakawi
00000238	-	-	-	F	yes	Morocco	-	-	-	-	-	HDBSCC	-	JAM3	JAM3	1	1	Nadia Nakawi

Legend

How to query

Global Variome shared LOVD

SH3TC2 (SH3 domain and tetratricopeptide repeats 2)