All individuals with variants in gene POMT2

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.

264 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
00064762	SIDS007	PubMed: Neubauer 2017 Journal: Neubauer 2017	-	F	?	Switzerland	Europe	00y08m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00150157	26539891-FamBAB4388	PubMed: Karaca 2015	-	-	-	-	-	-	-	family structure in paper	-	?	intellectual diability, microcephaly, cortical dysplasia, Dandy Walker, agenesis of CC, decreased number of sulci and gyrus, cortical gray matter increased, high CPK, encephalocele, microphthalmia, leukocoria (right eye) and enophthalmia (bilaterally), choroid and retinal coloboma	1	1	Johan den Dunnen
00151507	?	-	-	-	-	(United States)	-	-	-	-	-	MDC	-	1	1	Tom Winder
00151969	MP10-0308	-	-	F	no	United States	African-american	13y	-	-	-	LGMD	Limb-girdle MD (clinical); IHC decreased functional glycosylation	1	1	Aaron Bossler
00152335	-	PubMed: Godfrey 2007	-	-	yes	-	-	-	-	-	-	MEB	-	2	1	Judith Pagan
00152432	-	PubMed: van Reeuwijk 2005	first-cousin parents	M	-	Pakistan	-	-	-	-	-	WWS	-	2	1	Johan den Dunnen
00152433	-	PubMed: van Reeuwijk 2005	first cousin parents	M	-	India	Bengali	-	-	-	-	WWS	-	2	1	Johan den Dunnen
00152434	-	PubMed: van Reeuwijk 2005	niece/uncle parents	F	yes	Morocco	-	-	-	-	-	WWS	CPK 12144	4	1	Johan den Dunnen
00152435	18513969-Pat15	PubMed: Villanova, PubMed: Mercuri 2006, PubMed: Messina 2008	-	F	-	Italy	-	-	-	-	-	MEB	atypical phenotype; CPK 10x	2	1	Johan den Dunnen
00152436	-	-	-	F	-	United States	-	-	-	-	-	?	CMD	2	1	Tom Winder
00152437	-	PubMed: van Reeuwijk 2005	-	-	-	-	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00152438	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152439	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152440	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152441	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152442	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152443	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152444	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152445	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152446	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152447	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152448	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152449	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152450	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152451	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152452	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152453	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152454	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152455	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152456	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152457	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152458	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152459	-	PubMed: Clement-Pat12	-	-	-	-	-	-	-	-	-	MDC	contractures, rigid spine, weakness upper limbs > lower limbs, white matter abnormality; microcephaly, no eye involvement; CPK 3100; intellectual disability (HP:0001249); onset neonatal; not able to sit	2	1	Johan den Dunnen
00152460	-	PubMed: Clement-Pat9	-	-	-	-	-	-	-	-	-	MDC	contractures, hypertrophy, weakness upper and lower limbs, myopia, microcepahly, MRI cerebellar hypoplasia, hydrocephalus, macroglossia; CPK 2000; intellectual disability (HP:0001249); onset neonatal; not able to sit	2	1	Johan den Dunnen
00152461	-	PubMed: Clement-Pat19	-	-	-	-	-	-	-	-	-	MDC	contractures, hypertrophy, scoliosis, congenital cataracts, microcepahly, MRI hydrocephalus, brainstem involvement, white matter abnormality,, seizures, RIP age 11y; CPK 6000; intellectual disability (HP:0001249); onset neonatal; able to sit	2	1	Johan den Dunnen
00152462	Pat16/Pat79	PubMed: Clement, PubMed: O'Grady 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	MDC	contractures, no hypertrophy, spine unaffected, hypermetropia, MRI hydrocephalus, white matter abnormality, cerebellar cysts; hypermetropia; not able to sit	2	1	Johan den Dunnen
00152463	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	MDC	no contractures, hypertrophy, spine unaffected, microcepahly, white matter abnormality, brainstem involvement,; CPK 5200; intellectual disability (HP:0001249); not able to walk	2	1	Johan den Dunnen
00152464	-	PubMed: Clement-Pat17	-	-	-	-	-	-	-	-	-	MDC	hypertrophy, spine unaffected, weakness upper limbs > lower limbs, myopia, no microcepahly, WM, CDys, CC, PMG; intellectual disability (HP:0001249); able to walk	2	1	Johan den Dunnen
00152465	FamPat15a	PubMed: Godfrey 2007	2-generation family, 2 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	MDC	cerebellar CMD, contractures, hypertrophy, weakness upper limbs > lower limbs, microcepahly,; CPK 4700; intellectual disability (HP:0001249); onset infant; able to walk	1	2	Johan den Dunnen
00152466	FamPat15b	PubMed: Godfrey 2007	relative of Pat15b	-	-	-	-	-	-	-	-	MDC	cerebellar CMD, MRI cerebellar hypoplasia, micropenis and cryptorchidism; CPK 5200; intellectual disability (HP:0001249); onset infant; able to sit	1	1	Johan den Dunnen
00152467	-	PubMed: Clement-Pat5	-	-	-	-	-	-	-	-	-	LGMD	no contractures, hypertrophy, spine unaffected, echo right bundle branch block; no microcephaly, no eye involvement; CPK 1900; intellectual disability (HP:0001249); able to walk	2	1	Johan den Dunnen
00152468	-	PubMed: Clement-Pat10	-	-	-	-	-	-	-	-	-	MDC	contractures, hypertrophy, rigid spine, scoliosis, microcepahly, white matter abnormality, brain stem involvement; no eye involvement; CPK 5500; intellectual disability (HP:0001249); onset neonatal; able to sit	2	1	Johan den Dunnen
00152469	-	PubMed: Manya 2008	-	-	-	-	-	2y6m	-	-	-	WWS	severe	2	1	Johan den Dunnen
00152470	-	PubMed: Manya 2008	-	-	-	-	-	-	-	-	-	MDC	less severe, MRI no severe abnormalities; intellectual disability (HP:0001249)	2	1	Johan den Dunnen
00152471	-	PubMed: Manya 2008, PubMed: Yanagisawa 2009	-	F	-	France	-	16y	-	-	-	MDC	minor brain structural abnormalities; moderate myopia; CPK 5100; intellectual disability (HP:0001249); onset neonatal; able to stand	3	1	Johan den Dunnen
00152472	-	PubMed: Manya 2008	-	-	-	-	-	-	-	-	-	MD	-	1	1	Johan den Dunnen
00152473	-	PubMed: Manya 2008	-	-	-	-	-	-	-	-	-	MDC	less severe, MRI no severe abnormalities; intellectual disability (HP:0001249)	2	1	Johan den Dunnen
00152474	-	-	-	-	yes	-	-	-	-	-	-	MEB	-	2	1	Judith Pagan
00152475	-	-	-	M	-	United States	-	-	-	-	-	MDC	microcephaly, cognitive impairment; limited unassisted walking	2	1	Tom Winder
00152476	-	-	-	-	-	United States	-	-	-	-	-	MDC	-	2	1	Tom Winder
00152477	18513969-Pat16, 19299310-Pat22	PubMed: Messina 2008, PubMed: Mercuri 2009	-	M	-	Italy	-	-	-	-	-	MDC	Cerebellar hypoplasia, mild ventricular enlargement, flat pons; CPK 15x; able to walk	2	1	Rosário dos Santos
00152478	18513969-Pat17, 19299310-Pat23	PubMed: Messina 2008, PubMed: Mercuri 2009	-	F	-	Italy	-	-	-	-	-	MDC	Cerebellar hypoplasia, flat pons; CPK 20x; able to sit	2	1	Rosário dos Santos
00152479	18513969-Pat18, 19299310-Pat25	PubMed: Messina 2008, PubMed: Mercuri 2009	-	M	-	Italy	-	-	-	-	-	MDC	Cortical dysplasia, cerebellar cysts; CPK 20x; able to sit	1	1	Rosário dos Santos
00152480	-	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<0y	-	-	-	LIS	-	1	1	Johan den Dunnen
00152481	-	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<0y	-	-	-	LIS	-	1	1	Johan den Dunnen
00152482	-	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<0y	-	-	-	LIS	-	2	1	Johan den Dunnen
00152483	-	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<0y	-	-	-	LIS	-	2	1	Johan den Dunnen
00152484	-	PubMed: Bouchet 2007	aborted fetus	-	-	(France)	-	<0y	-	-	-	LIS	-	2	1	Johan den Dunnen
00152485	-	PubMed: Biancheri 2007	-	F	no	(Italy)	-	>5y	-	-	-	LGMD	inflammatory changes, no brain involvement, calf hypertrophy; CPK 2327; able to walk	2	1	Rosário dos Santos
00152486	-	PubMed: Murakami 2008	-	M	-	Japan	-	>4y	-	-	-	MDC	no marked brain malformation and ocular involvement; CPK 33,000; >1,000; DQ: 7m- 83; 3y- 47; onset neonatal; able to walk	2	1	Rosário dos Santos
00152487	-	PubMed: Yanagisawa 2009	-	F	-	France	-	>15y	-	-	-	MDC	Cerebellar cysts; strabismus; CPK 2100; intellectual disability (HP:0001249); onset neonatal; able to sit	3	1	Rosário dos Santos
00152488	-	PubMed: Yanagisawa 2009	-	M	-	France	-	>4y	-	-	-	MDC	Microcephaly; White matter abnormalities; CPK increased; intellectual disability (HP:0001249); onset neonatal; able to sit	2	1	Rosário dos Santos
00152489	-	PubMed: Yanagisawa 2009	-	M	-	Portugal	-	>5y	-	-	-	MDC	Microcephaly; discrete white matter abnormalities;; CPK increased; intellectual disability (HP:0001249); onset neonatal; able to sit	2	1	Rosário dos Santos
00152490	-	PubMed: Yanagisawa 2009, PubMed: Ruggieri 2001	sib of patient 6	M	-	Argentina	-	15y	-	-	-	MDC	Focal cerebral dysplasia; minor white matter abnormalities; cerebellar cysts; CPK 1300; intellectual disability (HP:0001249); onset neonatal; able to sit	2	2	Rosário dos Santos
00152491	-	PubMed: Ruggieri 2001, PubMed: Yanagisawa 2009	sib of patient 5	F	-	Argentina	-	15y	-	-	-	MDC	Focal cerebral dysplasia; minor white matter abnormalities; cerebellar cysts; CPK 1900; intellectual disability (HP:0001249); onset neonatal; able to sit	2	2	Rosário dos Santos
00152492	-	PubMed: Manzini 2008	-	-	-	Palestine	-	-	-	-	-	WWS	Brain and ocular involvement; CPK elevated; onset neonatal	2	1	Rosário dos Santos
00152493	-	PubMed: Manzini 2008	-	-	-	United States	white	-	-	-	-	WWS	Brain and ocular involvement; tower skull deformity; CPK 2000; onset neonatal	2	1	Rosário dos Santos
00152494	-	PubMed: Manzini 2008	-	-	-	Saudi Arabia	-	-	-	-	-	WWS	Brain and ocular involvement; hydronephrosis; CPK 1666; onset neonatal	2	1	Rosário dos Santos
00152495	-	PubMed: Willer 2012	-	-	-	United States	-	-	-	-	-	MDC	microcephaly, MRI white matter changes, severe speach delay; WWS/MEB ; CPK 6,000-8,000	2	1	Tom Winder
00152496	-	-	-	-	-	United States	-	-	-	-	-	MDC	-	2	1	Tom Winder
00152497	-	-	-	F	-	United States	-	-	-	-	-	MDC	-	1	1	Tom Winder
00152498	-	PubMed: Clement-Pat13	-	-	-	-	-	-	-	-	-	MDC	microcephaly, no eye involvement; CPK 2900; intellectual disability (HP:0001249)	2	1	Johan den Dunnen
00152499	19067344-Pat26	PubMed: Clement 2008	-	-	-	-	-	-	-	-	-	MDC	no microcephaly, cataracts, bupthalmus; CPK 3200; intellectual disability (HP:0001249)	1	1	Johan den Dunnen
00152500	-	-	-	-	-	United States	-	-	-	-	-	MDC	MRI white matter changes, cognitive delay; CPK 3000	1	1	Tom Winder
00152501	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152502	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152503	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152504	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152505	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152506	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152507	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152508	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152509	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152510	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152511	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152512	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152513	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152514	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152515	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152516	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152517	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152518	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152519	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152520	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152521	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152522	-	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00152523	-	-	-	M	-	Canada	French Canadian	-	-	-	-	MDC	-	1	1	Tom Winder
00152524	Pat6	PubMed: Punetha 2016	-	M	-	-	-	-	-	-	-	LGMD	Very mild-learning disability-ADHD, muscle biopsy showed fiber size variation with type 1 predominance ; CPK highly elevated	2	1	Jaya Punetha
00152525	Pat8	PubMed: Punetha 2016	-	F	-	-	-	-	-	-	-	MDC	Myopia, dysarthria, weakness, contractures, no joint laxity, cognitive impairment, positive response on steroids. ; CPK moderately elevated	1	1	Jaya Punetha
00152662	18513969-Pat14, 19299310-Pat20	PubMed: Messina 2008, PubMed: Mercuri 2009	-	F	-	Italy	-	-	-	-	-	MDC	see paper; ...	2	1	Johan den Dunnen

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Global Variome shared LOVD

POMT2 (protein-O-mannosyltransferase 2)