All individuals with variants in gene POMT1

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.

340 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00000019	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD, TSC	-	1	1	Global Variome, with Curator vacancy
00025478	-	-	-	M	no	China	-	-	-	-	-	MDC	motor and cognitive delay at birth,His developmental milestones were characterized by gross delay. He could control his head movements when he was 8 months old, and sit unsupported at 14 months. When he was 2 years old, he could walk a few steps with help and could say “mother” and “father”. His head circumference was 46.2 cm when he was 2 years old, he had calf muscle hypertrophy and no significant joint contracture, but had mild muscle weakness, and tendon reflexes were absent. Brain MRI revealed type II agyria deformities	2	1	Yanghaipo
00025479	-	-	-	M	no	China	-	00y10m	-	-	-	MDC	He had delayed psychomotor development after birth, muscle hypotonia, and early joint contractures; serum CK was moderately elevated; brain MRI revealed brain structural malformations, cerebellar cyst, and bilateral dilatation of the lateral ventricle, and cerebellar and brainstem dysplasia . He died at the age of 10 months,	2	1	Yanghaipo
00025480	-	-	-	M	-	China	-	-	-	-	-	MDC	He had hypotonia and delayed motor milestones from birth. His head circumference was 48 cm when he was 8 years old and there was muscle weakness and absence of tendon reflexes. He also had optic atrophy. His serum CK level was 2174 U/L.	2	1	Yanghaipo
00025481	-	-	-	M	-	(China)	-	-	-	-	-	MDC	developmental milestones were characterized by gross delay	2	1	Yanghaipo
00025485	-	-	-	M	no	-	-	-	-	-	-	MDC	developmental milestones were characterized by obvious gross delay,Physical examination determined that he had facial myopathy and poor eyesight. His head circumference at the age of 7 years was 49 cm, and he had high arched palate, bilateral knee joint contracture, muscle weakness, and absence of tendon reflexes. Brain MRI revealed bilateral dilation of the lateral and fourth ventricles, brain stem hypoplasia, and a cerebellar cyst The white matter on the left side of the brain had demyelination changes. His serum CK level was 6620 U/L.	2	1	Yanghaipo
00054684	Pat102	PubMed: O'Grady 2016	2-generation family, unaffected heterozygous carrier parents	F	-	Australia	-	>08y	-	-	-	MDC	walked age 22mo, contractures, hepatosplenomegaly, moderate intellectual disability; CPK elevated (4000-9000); IHC alphaDG; histology dystrophic	2	1	Sandra Cooper
00080974	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	MDDGB1	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (OMIM:613155)	1	1	Daniel Trujillano
00152234	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152235	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152236	-	PubMed: Currier 2005	-	F	no	United States	white	-	-	-	-	MDC	CPK 39650	1	1	Johan den Dunnen
00152237	-	PubMed: Currier 2005	-	-	-	United States	white	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152238	-	PubMed: Kim 2004, PubMed: Akasaka Manya 2004, PubMed: Matsumoto 2005, OMIM:var0004	-	M	no	Japan	-	>3y6m	-	-	-	WWS	no protein activity; CPK 6000-31000; intellectual disability (HP:0001249)	1	1	Johan den Dunnen
00152239	-	PubMed: van Reeuwijk 2006	-	-	-	Qatar	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152240	-	PubMed: Yis 2007	-	M	-	Turkey	-	-	-	-	-	WWS	CPK 1850	2	1	Johan den Dunnen
00152241	-	PubMed: Beltran-Valero de Bernabe 2002	-	-	yes	Italy	Gypsy	-	-	-	-	WWS	hydrocephalus, cobblestone lissencephaly with agyria and agenesis corpus callosum, hypoplasia cerebellar vermis in posterior cranial fossa, buphthalmos, retinal dysplasia, lens opacities; CPK >3500	5	1	Johan den Dunnen
00152242	-	PubMed: van Reeuwijk 2006	-	-	-	Ireland	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152243	-	-	-	M	-	United States	-	-	-	-	-	WWS	-	1	1	Tom Winder
00152244	-	PubMed: Beltran-Valero de Bernabe 2002, PubMed: Cormand 2001, PubMed: Akasaka Manya 2004	first cousin parents	F;M	yes	Turkey	-	-	-	-	-	WWS	CPK >2000 / ?	1	1	Johan den Dunnen
00152245	-	PubMed: van Reeuwijk 2006	-	-	-	Pakistan	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152246	-	PubMed: van Reeuwijk 2006	2 affecteds	-	-	Lebanon	-	-	-	-	-	WWS	-	1	2	Johan den Dunnen
00152247	-	PubMed: Balci 2005, PubMed: Dincer 2003	shared haplotype suggest common ancestor	F	yes	Turkey	-	>7y	-	-	-	LGMD	mild; CPK 28x; mild intellectual disability (HP:0001256) IQ65	12	1	Johan den Dunnen
00152248	-	PubMed: Balci 2005, PubMed: Dincer 2003	shared haplotype suggest common ancestor	M	yes	Turkey	-	>11y	-	-	-	LGMD	mild; mild intellectual disability (HP:0001256) IQ50	12	1	Johan den Dunnen
00152249	-	PubMed: Balci 2005, PubMed: Dincer 2003	shared haplotype suggest common ancestor	M	yes	Turkey	-	>10y	-	-	-	LGMD	mild; CPK 40x; mild intellectual disability (HP:0001256) IQ50	12	1	Johan den Dunnen
00152250	-	PubMed: Balci 2005, PubMed: Dincer 2003	shared haplotype suggest common ancestor	M	yes	Turkey	-	>17y	-	-	-	LGMD	mild; CPK 20x; mild intellectual disability (HP:0001256) IQ55	12	1	Johan den Dunnen
00152251	-	PubMed: Balci 2005, PubMed: Dincer 2003	shared haplotype suggest common ancestor	M	yes	Turkey	-	>19y	-	-	-	LGMD	severe; CPK 40x; mild intellectual disability (HP:0001256) IQ50; 17y-lost ability to walk	12	1	Johan den Dunnen
00152252	-	PubMed: Beltran-Valero de Bernabe 2002, PubMed: Cormand 2001	first cousin parents	F	yes	Turkey	-	3y	-	-	-	WWS	cobblestone lissencephaly, microphthalmia, buphthalmos, megalocornea, glaucoma, retinal dysplasia, one fetus encephalocele; CPK 1700	1	1	Johan den Dunnen
00152253	-	PubMed: Beltran-Valero de Bernabe 2002, PubMed: Cormand 2001	first cousin parents	F	yes	Turkey	-	2m	-	-	-	WWS	CPK >2000	1	1	Johan den Dunnen
00152254	-	PubMed: van Reeuwijk 2006	-	-	-	Turkey	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152255	-	PubMed: Beltran-Valero de Bernabe 2002, PubMed: Akasaka Manya 2004	-	F	no	Netherlands	-	-	-	-	-	WWS	hydrocephalus, cobblestone lissencephaly, cerebellar atrophy, bilateral microphthalmia, frontal bossing; pregnancy terminated for exencephaly	2	1	Johan den Dunnen
00152256	18513969-Pat9, 19299310-Pat9	PubMed: van Reeuwijk 2006, PubMed: Manya 2008, PubMed: Messina 2008, PubMed: Mercuri 2009	2-generation family, 3 affected sibs, unaffected heterozygous carrier parents	-	-	Italy	-	>18y	-	-	-	MDC	Cerebellar hypoplasia and dysplasia; CPK 15x; able to sit	2	3	Johan den Dunnen
00152257	18513969-Pat7, 19299310-Pat7	PubMed: van Reeuwijk 2006, PubMed: Messina 2008, PubMed: Mercuri 2009	-	-	-	Italy	-	>03y	-	-	-	MDC	Myopia; Cerebellar hypoplasia periventricular WM changes, thin CC; CPK 5x; able to sit	2	2	Johan den Dunnen
00152258	18513969-Pat11, 19299310-Pat12	PubMed: van Reeuwijk 2006, PubMed: Messina 2008, PubMed: Mercuri 2009	-	F	-	Italy	-	>17y	-	-	-	MDC	Cortical dysplasia, flat pons, cerebellar hypoplasia; CPK 25x; able to sit	2	2	Johan den Dunnen
00152259	-	PubMed: van Reeuwijk 2006	-	-	-	Netherlands	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00152260	-	PubMed: van Reeuwijk 2006	-	-	-	Netherlands	-	-	-	-	-	WWS	-	2	1	Johan den Dunnen
00152261	-	PubMed: van Reeuwijk 2006	-	-	-	India	-	-	-	-	-	WWS	-	2	1	Johan den Dunnen
00152262	-	PubMed: Willer 2012	-	F	-	United States	-	-	-	-	-	MDC	-	2	1	Tom Winder
00152263	-	-	-	F	-	United States	-	-	-	-	-	MDC	-	2	1	Tom Winder
00152264	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152265	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152266	-	PubMed: Beltran-Valero de Bernabe 2002	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152267	-	PubMed: Beltran-Valero de Bernabe 2002	monozygoitc twin girls	F	no	Austria	-	-	-	-	-	WWS	encephalocele, pachygyria/agyria; on MRI, large ventricles, cerebellar vermis hypoplasia/aplasia, corpus callosum hypoplasia, cataract; one bilateral microtia; CPK markedly raised	1	2	Johan den Dunnen
00152268	-	PubMed: Beltran-Valero de Bernabe 2002, PubMed: van Reeuwijk 2006, PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152269	-	PubMed: van Reeuwijk 2006	-	-	-	Turkey	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152270	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152271	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152272	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152273	-	-	-	M	-	United States	-	-	-	-	-	MDC	-	1	1	Tom Winder
00152274	-	PubMed: van Reeuwijk 2006	-	-	-	Turkey	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152275	-	PubMed: van Reeuwijk 2006	-	-	-	Turkey	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152276	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152277	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152278	-	PubMed: van Reeuwijk 2006	-	-	-	Turkey	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152279	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152280	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152281	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152282	-	PubMed: Beltran-Valero de Bernabe 2002	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152283	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152284	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152285	-	PubMed: van Reeuwijk 2006	-	-	-	Italy	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152286	-	-	CMD patient	F	-	United States	-	-	-	-	-	?	pathogenicity unclear	1	1	Tom Winder
00152287	-	PubMed: van Reeuwijk 2006	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152288	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152289	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152290	-	PubMed: Currier 2005	-	-	-	Italy	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152291	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	1	1	Johan den Dunnen
00152292	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152293	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152294	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152295	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152296	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152297	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152298	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	LGMD	no contractures, hypertrophy, spine unaffected, eyes unaffected, microcepahly, MRI normal,; CPK 4000; intellectual disability (HP:0001249); onset infant; able to walk	2	1	Johan den Dunnen
00152299	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152300	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152301	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152302	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152303	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152304	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152305	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152306	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152307	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152308	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152309	Pat7/Pat61	PubMed: Clement, PubMed: O'Grady 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	MDC	spine unaffected, eyes unaffected, white matter abnormality; CPK 7800; intellectual disability (HP:0001249); onset infant; 2y-not able to walk	2	1	Johan den Dunnen
00152310	-	PubMed: Clement-Pat6	-	-	-	-	-	-	-	-	-	LGMD	hypertrophy, eyes unaffected, microcepahly, white matter minimal abnormality; no eye involvement; CPK 8000; intellectual disability (HP:0001249); able to walk	2	1	Johan den Dunnen
00152311	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152312	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152313	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	WWS	contractures, hypertrophy, scoliosis, rigid spine, weakness lower limbs > upper limbs, poor visual attention, microcepahly, MRI hydrocephalus, cerebellar hypoplasia, white matter abnormality, lissencephaly, gastrostomy; CPK 4000; intellectual disability (HP:0001249); not able to sit	1	1	Johan den Dunnen
00152314	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	WWS	contractures, hypertrophy, scoliosis, rigid spine, weakness lower limbs > upper limbs, poor visual attention, microcepahly, MRI hydrocephalus, cerebellar hypoplasia, white matter abnormality, lissencephaly, gastrostomy; CPK 4000; intellectual disability (HP:0001249); not able to sit	1	1	Johan den Dunnen
00152315	-	PubMed: Clement-Pat15	-	-	-	-	-	-	-	-	-	MDC	Muscle Eye Brain disease/muscular dystrophy, congenital, Fukuyama like; contractures, congenital glaucoma, microcepahly, MRI hydrocephalus, brainstem involvement, cerebellar cysts, cerebellar hypoplasia, white matter abnormality,; CPK 3500; intellectual disability (HP:0001249)	2	1	Johan den Dunnen
00152316	-	PubMed: Godfrey 2007	-	-	-	Turkey	-	-	-	-	-	LGMD	hypertrophy, spine unaffected, microcepahly, MRI normal,; CPK 2000; intellectual disability (HP:0001249); onset infant; able to walk	2	1	Johan den Dunnen
00152317	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152318	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152319	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152320	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152321	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152322	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152323	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152324	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152325	-	PubMed: Clement-Pat8	-	-	-	Greece	-	-	-	-	-	MDC	hypertrophy, rigid spine, microcepahly, white matter minimal abnormality, choreic movement disorder; no eye involvement; CPK 18000; intellectual disability (HP:0001249); able to walk	2	1	Johan den Dunnen

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Global Variome shared LOVD

POMT1 (protein-O-mannosyltransferase 1)