All individuals with variants in gene G6PC

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.

56 entries on 1 page. Showing entries 1 - 56.

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
00103995	Vogelaar-049A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104004	Vogelaar-125A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00183458	Patient XX	PubMed: Giugliano 2018	-	M	-	Italy	-	-	-	-	-	MYOP	onset adult, hyperCKemia, proximal muscle weakness, elevated CPK (7x), EMG normal, biopsy myopathic features	1	1	Teresa Giugliano
00245845	-	-	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	GSD1B	-	2	1	Shu Yau
00245846	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	4	1	LOVD
00245847	-	-	liver biopsy G6Pase activity undetectable	-	-	United States	-	-	-	-	-	GSD1A	-	2	1	LOVD
00245848	-	-	-	-	-	United States	-	-	-	-	-	GSD1A	-	2	1	LOVD
00291712	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291713	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291714	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	15	Mohammed Faruq
00329073	P1	PubMed: Wang 2013	-	M	-	United States	-	-	-	-	-	GSD	see paper; ..., hypoglycemia, hepatosplenomegaly	1	1	LOVD
00329074	P2	PubMed: Wang 2013	-	M	-	United States	-	-	-	-	-	GSD	see paper; ..., hypoglycemia, mild hepatosplenomegaly	2	1	LOVD
00329089	P22	PubMed: Wang 2013	-	M	-	United States	-	-	-	-	-	GSD	see paper; ..., GSD Ia, hypoglycemia, lactic acidosis, hepatomegaly	1	1	LOVD
00395953	patient	PubMed: Razaq 2021	-	M	no	United States	Middle East;Hispanic	-	-	-	-	BMD/DMD, WEST	4m-epileptic spasms, no head control; 5m-EEG hypsarrhythmia; 9m-severe developmental delay; MRI brain cortical atrophy; 18m-raised CK 25,000, 20m-	1	1	Johan den Dunnen
00415265	20	PubMed: Alfares 2018	-	M	-	-	-	-	-	-	-	retinal disease	OMIM: 232200; hepatomegaly, high liver enzymes, high lactic acid, high ammonia, and direct hyperbilirubinemia	1	1	LOVD
00427051	-	PubMed: Reiner 2022	carrier screening 73,755 controls	-	-	United States	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00432971	#8	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00432973	#9	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00432975	#10	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00432976	#1	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	4	Johan den Dunnen
00432977	#2	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	2	Johan den Dunnen
00432978	#3	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	4	Johan den Dunnen
00432979	#5	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	2	Johan den Dunnen
00432980	#4	PubMed: Lei 1995	-	-	-	-	Hispanic	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00432981	#6	PubMed: Lei 1995	-	-	-	-	Hispanic	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00432982	#7	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	3	Johan den Dunnen
00433162	-	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	38	Johan den Dunnen
00433163	-	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	29	Johan den Dunnen
00433164	-	PubMed: Lei 1995	-	-	-	-	Hispanic	-	-	-	-	GSD1A	-	1	9	Johan den Dunnen
00433165	-	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433166	-	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433167	-	PubMed: Lei 1995	-	-	-	-	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433168	-	PubMed: Lei 1995	-	-	-	United States	Jew	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433169	-	PubMed: Lei 1995	-	-	-	United States	Jew	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433170	-	PubMed: Lei 1995	-	-	-	United States	Jew	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433171	-	PubMed: Lei 1995	-	-	-	United States	Jew	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433172	-	PubMed: Lei 1995	-	-	-	United States	Jew	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433173	-	PubMed: Lei 1995	-	-	-	United States	Jew	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433174	-	PubMed: Lei 1995	-	-	-	United States	Jew	-	-	-	-	GSD1A	-	2	1	Johan den Dunnen
00433175	-	PubMed: Lei 1995	-	-	-	United States	Jew	-	-	-	-	GSD1A	-	2	1	Johan den Dunnen
00433176	-	PubMed: Lei 1995	-	-	-	China	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433177	-	PubMed: Lei 1995	-	-	-	China	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433199	PatAN	PubMed: Lei 1995	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	GSD1A	see paper	1	1	Johan den Dunnen
00433200	PatLT	PubMed: Lei 1995	2-generation family, 1 affected, unaffected heterozygous carrier mother	-	-	United States	-	-	-	-	-	GSD1A	-	1	1	Johan den Dunnen
00433201	PatCA	PubMed: Lei 1995	2-generation family, 1 affected, unaffected heterozygous carrier mother	-	-	United States	-	-	-	-	-	GSD1A	-	2	1	Johan den Dunnen
00433202	PatJD	PubMed: Lei 1995	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	GSD1A	-	2	1	Johan den Dunnen
00433203	PatPG	PubMed: Lei 1995	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	GSD1A	-	2	1	Johan den Dunnen
00433204	PatRH	PubMed: Lei 1995	2-generation family, 1 affected, unaffected heterozygous carrier mother	-	-	United States	-	-	-	-	-	GSD1A	-	2	1	Johan den Dunnen
00433205	PatML	-	-	-	-	United States	-	-	-	-	-	GSD1A	-	2	1	Johan den Dunnen
00433206	PatLLP	PubMed: Lei 1994	-	-	-	United States	-	-	-	-	-	GSD1A	-	2	1	Johan den Dunnen
00445042	?	PubMed: Kessel 2021	patient	-	-	Denmark	-	-	-	-	-	CTRCT	bilateral cataract	2	1	Johan den Dunnen
00451441	3bINP-029	PubMed: Vela-Amieva 2024	-	F	no	Mexico	Mexican	-	-	-	-	GSD1A	Hypoglycemia	2	1	Miriam Erandi Reyna-Fabián
00451657	3bINP-102	PubMed: Vela-Amieva 2024	Parents with inbreeding and consanguinity (not molecularly tested).	F	yes	Mexico	Mexican	-	-	-	-	GSD1A	Mild Intellectual disability, Hepatomegaly, Hypoglicemias	1	1	Miriam Erandi Reyna-Fabián
00451660	3bINP-107	PubMed: Vela-Amieva 2024	-	F	no	Mexico	Mexican	-	-	-	-	GSD1A	Short stature, Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia.	2	1	Miriam Erandi Reyna-Fabián
00467346	Pat_06	PubMed: Tong 2018	patient	F	-	China	-	-	-	-	-	NDD	developmental delay, fever, anemia, hyperammonemia, intermittent generalized erythematous papular rash, goiter, hepatosplenomegaly, dystrophia, increased serum lactate	2	1	Johan den Dunnen
00467697	patient	PubMed: Fauntleroy-Love 2023	2-generation family, 1 affected, unaffected parents	M	-	United States	-	-	-	-	-	?	see paper; ..., facial dysmorphism, poor growth, cardiac/genitourinary findings, developmental delay; transient erythroblastopenia of childhood (TEC), immune deficiency; periventricular nodular heterotopia, stroke; growth retardation (height -4.91 SD, weight -3.03 SD), OFC (-1.37 SD), global developmental delay, feeding difficulties, failure to thrive (and severe malnutrition), neonatal aspiration on swallow study, atrial septal defect with left to right shunt, pyelectasis, bilateral hydronephross, obstructive sleep apnea, frequent ear infections and multiple upper respiratory infections, diarrhea (resolved), elevated erythrocyte sedimentation rate, bilateral testicles in the inguinal canals, oropharyngeal dysphasia and delayed swallow trigger, anemic, erythroblastopenia of childhood, sensorineural hearing loss	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

G6PC (glucose-6-phosphatase, catalytic subunit)