All individuals with variants in gene POMGNT1

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.

298 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00000061	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000076	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00095185	28765568-Pat1	PubMed: Xu 2017	-	-	-	China	-	-	-	-	-	MEB	-	1	1	Xiaona Fu
00095186	28765568-Pat2	PubMed: Xu 2017	-	-	-	China	-	-	-	-	-	MEB	-	2	1	Xiaona Fu
00095188	28765568-Pat3	PubMed: Xu 2017	-	-	-	China	-	-	-	-	-	MEB	-	2	1	Xiaona Fu
00151468	?	PubMed: Oliveira 2008	-	F	-	Portugal	-	-	-	-	-	MDC	brain changes; intellectual disability (HP:0001249)	1	1	Rosário dos Santos
00152130	-	PubMed: Taniguchi 2003	-	F	-	Korea, South (Republic)	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152131	15466003-Pat25	PubMed: Diesen 2004	-	-	-	United States	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152132	15466003-Pat23	PubMed: Diesen 2004	-	-	-	United States	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152133	15466003-Pat22	PubMed: Diesen 2004	-	-	-	Estonia	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152134	12849864-PatB	PubMed: Zhang 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	>07y	-	-	-	MEB	-	1	1	Johan den Dunnen
00152135	15833426-Pat2	PubMed: Matsumoto 2005	-	M	-	Japan	-	>00y06m	-	-	-	MEB	see paper; ..., CPK 6900; intellectual disability (HP:0001249)	2	1	Johan den Dunnen
00152137	15466003-Pat29/30	PubMed: Diesen 2004	2-generation family, 2 affected siblings, unaffected heterozygous carrier parents	-	-	Israel	Arab	-	-	-	-	MEB	-	1	2	Johan den Dunnen
00152138	11709191-PatSA	PubMed: Yoshida 2001, PubMed: Manya 2008	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152139	15466003-Pat26	PubMed: Diesen 2004	-	-	-	United States	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152140	15466003-Pat21	PubMed: Diesen 2004	-	-	-	Norway	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152141	15466003-Pat19	PubMed: Diesen 2004	-	-	-	Sweden	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152142	15466003-Fams	PubMed: Diesen 2004	18 affecteds 13 families (1 consanguineous, second-cousin parents); shared founder haplotype	F;M	-	Finland	-	-	-	-	-	MEB	-	1	18	Johan den Dunnen
00152143	16427280-PatK	PubMed: Vajsar 2006	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	MEB	see paper; ..., CPK ?, severe intellectual disability (HP:0010864)	1	2	Johan den Dunnen
00152144	16427280-PatR	PubMed: Vajsar 2006	PatR	M	-	-	-	-	-	-	-	MEB	see paper; ..., CPK 4485; severe intellectual disability (HP:0010864)	1	1	Johan den Dunnen
00152145	-	PubMed: Zhang 2003	-	-	-	-	-	>1y	-	-	-	MEB	severly reduced enzyme activity	2	1	Johan den Dunnen
00152146	11709191-PatYA	PubMed: Yoshida 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152147	11709191-PatKO	PubMed: Yoshida 2001	-	M	yes	Turkey	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152148	17906881-Pat5	PubMed: Haliloglu 2004, PubMed: Hehr 2007	2-generation family, unaffected heterozygous carrier parents	F	yes	Turkey	-	>15y	-	-	-	MEB	severe autistic features; CPK 1868	1	2	Johan den Dunnen
00152149	11709191-PatMK	PubMed: Yoshida 2001, PubMed: Taniguchi 2003, PubMed: Zhang 2003, PubMed: Manya 2003	2-generation family, 4 affecteds (3M, 1F), unaffected heterozygous carrier parents	M	?	Turkey	-	-	-	-	-	MEB	-	1	4	Johan den Dunnen
00152150	11709191-PatCC	PubMed: Yoshida 2001, PubMed: Manya 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152151	-	PubMed: Taniguchi 2003	-	F	-	Italy	-	-	-	-	-	WWS	atypical phenotype; congenital muscular dystrophy, retinal dysplasia, cerebellar vermis hypoplasia, type II lissencephaly, hydrocephalus	2	1	Johan den Dunnen
00152152	11709191-PatTLG	PubMed: Yoshida 2001, PubMed: Zhang 2003, PubMed: Manya 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	France	-	-	-	-	-	MEB	-	2	1	Johan den Dunnen
00152153	15236414-FamK6914PatII1	PubMed: Vervoort 2004, PubMed: Vajsar 2006	2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents	F	no	United States	white	-	-	-	-	MEB	20w ultra sound abnormal hydrocephalus; 42w-delivered by C-section, head 37 cm, hypotonia; 5dhead 38cm, bradycardia, ventriculoperitoneal shunt placed; 4w-corneal clouding, bilateral glaucoma, high myopia, staphylomas, optic nerve hypoplasia, retinal degeneration, cortical cataracts, nystagmus; 5m-epilepsy; complex partial with secondary generalized tonic-clonic and atypical absence seizures, status epilepticus 2x, ECG abnormal-slowing, left focal and spike waves; 6y-weaned from antiepileptic medication; severe to profound cognitive delays, mental retardation, averbal, no regression; severe/profound gross and fine motor delays with diffuse hypotonia, reflexes normal, HC at 10th percentile, height and weight 2nd percentile, low hairline, everted lower lip, short nasal bridge, mild micrognathia, midface hypoplasia; CK 2327 IU/l; CT/MRI brain abnormal with ventriculoperitoneal shunt	3	2	Johan den Dunnen
00152154	-	PubMed: Taniguchi 2003, PubMed: Manya 2003	-	F	-	Japan	American	-	-	-	-	WWS	phenotype hypotonia, high VEP, cataracts, cerebellar vermis hypoplasia, type II lissencephaly	2	1	Johan den Dunnen
00152155	Pat31;patient	PubMed: Diesen 2004, PubMed: Pascual-Castroviejo	probably same patient in both papers	M	-	Spain	-	-	-	-	-	MEB	-	2	1	Johan den Dunnen
00152156	-	PubMed: Taniguchi 2003, PubMed: Manya 2003	-	M	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00152157	15833426-Pat3	PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005	-	F	-	Japan	-	>01y	-	-	-	MEB	see paper; ..., CPK 8019; intellectual disability (HP:0001249)	2	1	Johan den Dunnen
00152158	-	PubMed: Taniguchi 2003, PubMed: Manya 2003	-	F	-	Belgium	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00152159	15466003-Pat27/28	PubMed: Diesen 2004	2-generation family, 2 affecteds, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	MEB	-	2	2	Johan den Dunnen
00152160	15466003-Pat20	PubMed: Diesen 2004	-	-	-	Sweden	-	-	-	-	-	MEB	-	2	1	Johan den Dunnen
00152161	15466003-Pat18	PubMed: Diesen 2004	-	-	-	Finland	-	-	-	-	-	MEB	-	2	1	Johan den Dunnen
00152162	15466003-Pat24	PubMed: Diesen 2004	-	M	-	United States	-	-	-	-	-	MEB	-	2	1	Johan den Dunnen
00152163	-	PubMed: Longman 2004	-	M	-	United Kingdom (Great Britain)	Anglo-Irish	>2y	-	-	-	MEB	CPK 1567	2	1	Johan den Dunnen
00152164	16427280-PatI	PubMed: Zhang 2003, PubMed: Vajsar 2006	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	F	-	-	-	>02y	-	-	-	MEB	see paper; ...	2	2	Johan den Dunnen
00152165	15466003-Pat32	PubMed: Diesen 2004	-	-	-	Italy	-	-	-	-	-	MEB	-	1	1	Johan den Dunnen
00152166	15466003-con	PubMed: Diesen 2004	-	-	-	Finland	-	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00152167	Pat22/Pat38	PubMed: Godfrey 2007, PubMed: O'Grady 2016	-	-	-	-	-	-	-	-	-	MDC	Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, spine unaffected, ptosis, retinal atrophy, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, cerebellar cysts, dyspraxia, feeding difficulties, seizures; ?microcephaly; CPK 2800; intellectual disability (HP:0001249); able to run	2	1	Johan den Dunnen
00152168	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152169	17878207-Pat19	PubMed: Godfrey 2007, PubMed: Clement	-	-	-	-	-	-	-	-	-	MDC	Muscle-Eye-Brain/Fukuyama Congenital Muscular Dystrophy like; contractures, hypertrophy, spine unaffected, optical atrophy, myopia, no microcepahly, cerebellar cysts, white matter abnormality, seizures, feeding difficulties; CPK 1000; intellectual disability (HP:0001249); able to walk	2	1	Johan den Dunnen
00152170	17878207-Pat21	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MDC	Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, no hypertrophy, spine unaffected, retinal detachment, hydrocephaly, cerebellar cysts, white matter abnormality, seizures, feeding difficulties; microcephaly; CPK 1200; intellectual disability (HP:0001249); onset neonatal; no motor ability	1	1	Johan den Dunnen
00152171	17878207-Pat24	PubMed: Godfrey 2007, PubMed: Clement	-	-	-	-	-	-	-	-	-	WWS	spine unaffected, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, cerebellar cysts, lissencephaly; no eye involvement, ?microcephaly; CPK 1300; intellectual disability (HP:0001249); onset neonatal; not able to sit	1	1	Johan den Dunnen
00152172	17878207-Pat20	PubMed: Godfrey 2007, PubMed: Clement 2008	-	F	no	Ireland	-	>21y	-	-	-	LGMD	no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, myopia, no microcephaly; CPK 5000-12000; no intellectual disability (-HP:0001249); able to run, normal milestones, 19y-lost ability to walk	1	1	Johan den Dunnen
00152173	17878207-Pat23	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MDC	MRI hydrocephalus, white matter abnormality, cerebellar cysts,; onset neonatal	1	1	Johan den Dunnen
00152174	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152175	17878207-Pat37	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152176	17878207-Pat38	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152177	17878207-Pat39	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152178	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152179	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152180	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152181	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152182	17878207-Pat18	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MDC	Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, no hypertrophy, congenital glaucoma, hydrocephaly, cerebellar cysts, white matter abnormality, brainstem involvement, ?microcephaly; CPK 780; intellectual disability (HP:0001249); onset infant; not able to walk	1	1	Johan den Dunnen
00152183	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152184	-	PubMed: Manya 2008	-	-	-	-	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00152185	-	PubMed: Manya 2008	-	-	-	-	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00152186	17559086-Fam14	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<00y00m00d	-	-	-	LIS	-	2	1	Johan den Dunnen
00152187	17559086-Fam15	PubMed: Bouchet 2007	2 aborted fetuses	-	-	(France)	-	<00y00m00d	-	-	-	LIS	-	2	2	Johan den Dunnen
00152188	17559086-Fam16	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<00y00m00d	-	-	-	LIS	-	3	1	Johan den Dunnen
00152189	17559086-Fam17	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<00y00m00d	-	-	-	LIS	-	2	1	Johan den Dunnen
00152190	17559086-Fam18	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<00y00m00d	-	-	-	LIS	-	1	1	Johan den Dunnen
00152191	17559086-Fam19	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<00y00m00d	-	-	-	LIS	-	1	1	Johan den Dunnen
00152192	17881266-Pat2	PubMed: Teber 2008	younger sib	M	yes	Taiwan	-	06y	-	-	-	MEB	seizures, epilepsy, brain lissencephaly; CPK 572; intellectual disability (HP:0001249); onset neonatal; no motor ability	1	1	Rosário dos Santos
00152193	17881266-Pat1	PubMed: Teber 2008	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents; intrafamilial clinical heterogeneity	F	yes	Turkey	-	>14y	-	-	-	MEB	brain MRI changes; CPK 1200; moderate intellectual disability (HP:0002342); onset neonatal; able to sit with support	1	2	Rosário dos Santos
00152195	17906881-Pat2a	PubMed: Hehr 2007	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Germany	-	-	-	-	-	MEB	tonic clonic seizures; CPK 2600	1	2	Rosário dos Santos
00152196	17906881-Pat2b	PubMed: Hehr 2007	Pat2b	M	-	Germany	-	-	-	-	-	MEB	tonic clonic seizures, hydrocephaly, brain MRI changes, gallbladder hydrops; CPK 1600; onset neonatal	1	1	Rosário dos Santos
00152197	17906881-Pat3	PubMed: Hehr 2007	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Germany	-	>16y	-	-	-	MEB	tonic clonic seizures, hydrocephaly, brain MRI changes, autistic behaviour; CPK 724	1	1	Rosário dos Santos
00152198	17906881-Pat4	PubMed: Hehr 2007	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Germany	-	>04y	-	-	-	MEB	spastic tetraparesis, no seizures, hydrocephaly, polymicrogyria; CPK increased; able to sit with support	2	1	Rosário dos Santos
00152199	-	PubMed: Hehr 2007	-	M	yes	Turkey	-	>6y	-	-	-	MEB	CPK 190; onset neonatal; no motor ability	2	1	Rosário dos Santos
00152200	17906881-Pat7	PubMed: Haliloglu 2004, PubMed: Hehr 2007	2-generation family, 1 affected, unaffected heterozygous carrier parents (first-degree parents)	M	yes	Turkey	-	>02y	-	-	-	MEB	seizures, severe hydrocephaly, brain changes; CPK 1000; onset neonatal; able to sit with support	1	1	Rosário dos Santos
00152201	17906881-Pat8	PubMed: Hehr 2007	-	F	-	-	-	>05y	-	-	-	MEB	seizures, hydrocephaly,cerebellar cysts; CPK 1950; mild intellectual disability (HP:0001256); onset neonatal	2	1	Rosário dos Santos
00152202	-	-	-	F	-	(United States)	-	-	-	-	-	MEB	-	2	1	Tom Winder
00152203	-	PubMed: Willer 2012	-	-	-	(United States)	-	-	-	-	-	MEB	-	3	1	Tom Winder
00152204	-	-	-	-	-	United States	-	-	-	-	-	MEB	congenital glaucoma, hydrocephalus; CPK elevated	2	1	Tom Winder
00152205	-	-	-	M	-	Canada	Arab	-	-	-	-	MDC	polymicrogyria, cerebellopontine hypoplasia	1	1	Tom Winder
00152206	-	-	-	F	-	Saudi Arabia	Arab	-	-	-	-	MEB	-	1	1	Tom Winder
00152207	-	PubMed: Clement 2008-Pat20	-	-	-	-	-	-	-	-	-	MDC	no microcephaly, myopia, retinal dysplasia; CPK 740; intellectual disability (HP:0001249)	2	1	Johan den Dunnen
00152208	-	PubMed: Clement 2008-Pat23	-	-	-	-	-	-	-	-	-	MDC	microcephaly, myopia; CPK 1500; intellectual disability (HP:0001249)	2	1	Johan den Dunnen
00152209	21727005-Pat1	PubMed: Vuillaumier-Barrot 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Tunisia	-	>08y	-	-	-	MEB	MRI brain dilated ventricles, pachygyria, cerebellar cysts, never walked, axial hypotonia requiring molded seat, epilepsy, severe eye dysfunction (right blindness, left severe myopia); CPK 900 UI/l; not able to walk	1	2	Johan den Dunnen
00152210	21727005-Pat2	PubMed: Vuillaumier-Barrot 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Algeria;France	-	>08y	-	-	-	MEB	2m life-threatening cyanosis in context gastrooesophageal reflux, hypotonia, motor development delayed, scoliosis, MR with absent verbal ability, autistic signs, shifty eyes, severe myopia; 4y muscle biopsy discrete fiber size variability, slightly increased connective endomysial tissue, EMG myopathic changes, normal nerve conduction velocities, ERG moderate macular activity, MRI brain atrophy brain stem, abnormality periventricular white matter; CPK 800-1000 UI/l; intellectual disability (HP:0001249); 5y-able to walk	2	1	Johan den Dunnen
00152211	-	-	-	-	-	United States	-	-	-	-	-	MEB	-	2	1	Tom Winder
00152212	-	-	-	F	-	United States	white	-	-	-	-	MDC	-	2	1	Tom Winder
00152213	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152214	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152215	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152216	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152217	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152218	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152219	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152220	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152221	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152222	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152223	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152224	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152225	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde

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Global Variome shared LOVD

POMGNT1 (protein O-linked mannose beta1,2-N-acetylg...)