Disease #05262 (SGBS (Simpson-Golabi-Behmel syndrome (SGBS)))

Official abbreviation	SGBS
Name	Simpson-Golabi-Behmel syndrome (SGBS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	59
Phenotype entries for this disease	59
Associated with 1 gene	GPC3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-04-21 21:59:47 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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'

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59 entries on 1 page. Showing entries 1 - 59.

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
00103218	28371070-Fam1Pat1	PubMed: Schmidt 2017, Journal: Schmidt 2017	3-generation family, 3 affected cousins, unaffected carrier mothers	M	no	Germany	German	-	-	-	-	SGBS	Pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; ultrasonograph macrosomia (HP:0001520), polyhydramnios (HP:0001561); birth 27w weight 1400g, length 40cm, OFC 29cm; 02y10m weight 17,7kg, length 99cm, OFC 49.2cm; brachycephaly (HP:0000248), coarse face (HP:0000280), hypertelorism (HP:0000316), epicanthal folds (HP:0000286), short nose (HP:0003196), broad nasal bridge (HP:0000431), arched eyebrows (HP:0002553), macrostomia (HP:0000154), macroglossia (HP:0000158), midline furrow of the tongue (HP:0000221), prognathism (HP:0000303), sparse hair (HP:0008070), low-set posteriorly rotated ears (HP:0000368), pectus carinatum (HP:0000768), broad fingers (HP:0001500), toes with short nails (HP:0001799); X-ray broad shortened phalanges (HP:0009803, HP:0006009), delayed bone age (HP:0002750), ...	GPC3	GPC3	1	3	Lynn Boekhoudt
00103223	28371070-Fam1Pat2	PubMed: Schmidt 2017, Journal: Schmidt 2017	-	M	no	Germany	German	-	-	-	-	SGBS	pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; birth 37w weight 4010g, length 56cm, OFC 36 cm; 01y09m weight 15kg, length 89.3cm, OFC 50.5cm; coarse face (HP:0000280), hypertelorism (HP:0000316), epicanthal folds (HP:0000286), short nose (HP:0003196), broad nasal bridge (HP:0000431), prognatism (HP:0000303), macrostomia (HP:0000154), macroglossia (HP:0000158), downturned lower lip (HP:0000232), bifid uvula (HP:0000193), low-set posteriorly rotated ears (HP:0000368), arched eyebrows (HP:0002553)	GPC3	GPC3	1	1	Lynn Boekhoudt
00103225	28371070-Fam1Pat3	PubMed: Schmidt 2017, Journal: Schmidt 2017	-	M	no	Germany	German	-	-	-	-	SGBS	pre- and postnatal overgrowth syndrome with intellectual disability and congenital malformations; birth 36w weight 3940g, length 54cm, OFC 35.5cm; 07y04m weight 34.3kg, length 138cm, OFC 55.3cm; Neurodevelopmental delay, delayed speech, coarse face (HP:0000280),hypertelorism (HP:0000316), short nose (HP:0003196), broad nasal bridge (HP:0000431), long philtrum (HP:0000343), macrostomia (HP:0000154), macroglossia (HP:0000158), midline furrow of the tongue (HP:0000221), prognathism (HP:0000303), arched bushy eyebrows (HP:0000574, HP:0002553), synophrys (HP:0000664), ...	GPC3	GPC3	1	1	Lynn Boekhoudt
00103754	26692054-P1	PubMed: Halayem 2015, Journal: Halayem 2015	2 generation family, 1 affected, unaffected non-carrier parents	M	no	Tunisia	-	-	-	-	-	SGBS	Simpson–Golabi–Behmel syndrome; birth 36w, weight 3350g, length 50cm, OFC 35.5cm; Macrosomia (HP:0001520), Coarse face (HP:0000280), Macrocephaly (HP:0000256), Broad nasal bridge (HP:0000431), Macrostomia (HP:0000154), Macrognathia (HP:0000303), Thoracolumbar kyphosis (HP:0005619), ...	GPC3	GPC3	1	1	Lynn Boekhoudt
00103756	27612164-Fam1PatIII1	PubMed: Magini 2016, Journal: Magini 2016	3-generation family; 3 affected fetuses (all terminated pregnancies), carrier mother	M	no	Italy	white	00y00m00d	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	4	Lynn Boekhoudt
00103757	27612164-Fam1PatIII2	PubMed: Magini 2016, Journal: Magini 2016	-	M	no	Italy	white	00y00m00d	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Lynn Boekhoudt
00103758	27612164-Fam1PatIII3	PubMed: Magini 2016, Journal: Magini 2016	fetus PatIII3	M	no	Italy	white	00y00m00d	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Lynn Boekhoudt
00103877	27612164-Fam2PatIV1	PubMed: Magini 2016, Journal: Magini 2016	affected fetus	M	no	Italy	-	<00y00m00d	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Johan den Dunnen
00108468	1-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00109422	2-1-P	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00111171	3-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117142	4-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117143	5-1-P	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00117144	6-1-T	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00117145	7-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117146	8-1-T	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00117147	9-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117148	10-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117149	11-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117150	12-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117151	13-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117152	14-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117153	15-1	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00117154	16-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117155	17-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117156	18-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117157	19-1-P	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00117158	20-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117159	21-1-P	PubMed: Vuillaume 2018	family, 3 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	3	Marie-Laure Vuillaume
00117160	22-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117161	23-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117162	24-1-P	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00117163	25-1-T	PubMed: Vuillaume 2018	family, 4 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	4	Marie-Laure Vuillaume
00117164	26-1-P	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00117165	27-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117166	28-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117167	29-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117168	30-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117169	31-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117170	32-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117171	33-1	PubMed: Vuillaume 2018	family, 2 affected	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	2	Marie-Laure Vuillaume
00117172	34-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117173	35-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117174	36-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117175	37-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117176	38-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117177	39-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117178	40-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117179	41-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117180	42-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117181	43-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117182	44-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117183	45-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117184	46-P	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117185	47-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117186	48-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00117187	49-T	PubMed: Vuillaume 2018	-	M	-	France	-	-	-	-	-	SGBS	see paper; ...	GPC3	GPC3	1	1	Marie-Laure Vuillaume
00207518	P1	PubMed: Fauth et al., 2016	-	M	no	Bosnia and Herzegovina;Switzerland	European	00y00m15d	-	-	Anti-epileptic medications	SGBS	High anterior hairline, upslanted palpebral fissures, a depressed nasal bridge, short nose with anteverted nares, malar flattening, a long philtrum, a thin vermilion of the lips, down‐turned corners of the mouth, micrognathia, a cleft soft palate, large and uplifted earlobes, an overfolded helix of the left ear, and a short neck. Widely spaced nipples. Severe muscular hypotonia and multiple contractures involving the elbows, wrists, fingers, hips and knees, short limbs, and rocker‐bottom feet. Small cerebellum, white‐matter immaturity, prominent sulci, and small optic nerves. Tonic seizures with ocular deviation. Hepatosplenomegaly and developed sepsis from necrotizing enterocolitis. Echochardiography showed a persistent foramen ovale and mild pulmonary hypertension. ALP level not recorded.	PIGA	PIGA	1	1	Philippe Campeau
00385932	-	PubMed: Ridnõi 2018	2-generation family, 3 affected fetuses, unaffected heterozygous carrier mother	M	-	(Estonia)	-	-	-	-	-	SGBS	-	-	GPC3	1	2	Sander Pajusalu

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