Disease #00361 (WWS (Walker-Warburg syndrome (WWS)))

Official abbreviation	WWS
Name	Walker-Warburg syndrome (WWS)
OMIM ID	-
Inheritance	Somatic mosaicism
Individuals reported having this disease	104
Phenotype entries for this disease	102
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-03-22 16:35:00 +01:00 (CET)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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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
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Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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104 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00016343	-	PubMed: Jae 2013	2-generation family, 1 affected, unaffected carrier parents	?	no	-	-	-	-	-	-	WWS	typical WWS	POMK	POMK	2	3	Johan den Dunnen
00016344	-	PubMed: Jae 2013	2-generation family, 1 affected, unaffected carrier parents	M	yes	-	-	00y22m	-	-	-	WWS	typical WWS	TMEM5	TMEM5	1	3	Johan den Dunnen
00016345	-	PubMed: Jae 2013	2-generation family, 2 affected sisters, unaffected carrier parents	F	yes	-	-	-	-	-	-	WWS	milder WWS; 1y-brainstem atrophy, dilated ventricles, widespread pachygyria, substantial white matter involvement	TMEM5	TMEM5	1	4	Johan den Dunnen
00016348	-	PubMed: Jae 2013	2-generation family, sister	F	yes	-	-	-	-	-	-	WWS	WWS, milder	TMEM5	TMEM5	1	1	Johan den Dunnen
00056445	-	-	4-generation family, 1 affected	M	yes	Jordan	-	<1m	-	-	-	WWS	cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia, retinal dysplasia, hypotonia	POMGNT2	POMGNT2	2	1	Johan den Dunnen
00056447	-	-	4-generation family, 1 affected	F	yes	Saudi Arabia	-	<1m	-	-	-	WWS	cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia, microphthalmia, macrophthalmia, hypotonia	POMGNT2	POMGNT2	2	1	Johan den Dunnen
00056449	-	-	2-generation family, fetus 1	F	?	India	-	<0d	-	-	-	WWS	cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia; 23w-terminated pregnancy ventricular enlargement	POMGNT2	POMGNT2	2	1	Johan den Dunnen
00056450	-	-	2-generation family, fetus 2	F	?	India	-	<0d	-	-	-	WWS	cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia; 20w-terminated pregnancy ventricular enlargement	POMGNT2	POMGNT2	2	1	Johan den Dunnen
00057849	-	PubMed: Stevens 2013	-	F	no	South Africa	-	-	-	-	-	WWS	terminated pregnancy, fetus severe hydrocephalus, ocular malformations (fetal ultrasound)	B3GALNT2	B3GALNT2	2	2	Johan den Dunnen
00057853	-	PubMed: Stevens 2013	-	M	no	South Africa	-	-	-	-	-	WWS	brain MRI severe hydrocephalus, cobblestone lissencephaly, epilepsy, severe hyptonia, did not attain any motor milestones; CPK: 6964 U/L	B3GALNT2	B3GALNT2	2	2	Johan den Dunnen
00057857	-	PubMed: Stevens 2013	-	F	no	United States	white	-	-	-	-	WWS	brain MRI severe hydrocephalus, cobblestone lissencephaly, epilepsy, severe hyptonia, did not attain any motor milestones; CPK: 21000 U/L	B3GALNT2	B3GALNT2	2	1	Johan den Dunnen
00057861	-	PubMed: Stevens 2013	-	M	?	United States	Hispanic	-	-	-	-	WWS	brain MRI severe hydrocephalus, cobblestone lissencephaly, severe hyptonia, did not attain any motor milestones; CPK: 1086 U/L	B3GALNT2	B3GALNT2	2	1	Johan den Dunnen
00146605	Pat2/Pat13	PubMed: Beltran, PubMed: Mercuri 2006, OMIM:var0017	no change in POMT1 and POMGnT1 genes	F	-	-	Asia	3y	-	-	-	WWS	-	FKRP	FKRP	2	1	Johan den Dunnen
00146828	P11	PubMed: Manzini 2008	-	?	-	Saudi Arabia	-	-	-	-	-	WWS	CPK 5941	FKRP	FKRP	2	1	Johan den Dunnen
00146829	P10	PubMed: Manzini 2008	-	?	no	United States	white	-	-	-	-	WWS	-	FKRP	FKRP	2	1	Rosário dos Santos
00146830	20236121-Pat1	PubMed: VanReeuwijk 2010	4-generation family, 2 affecteds, unaffected carriers	M	yes	Netherlands	-	-	-	-	-	WWS	born after elective Caesarean section; severe hydrocephalus macrocephalic, birth weight 3120g, head circumference 43cm (+2SD), anterior fontanel large/bulging with palpable separation cranial sutures; limited spontaneous limb movements, depressed tendon reflexes, no sucking reflex, grasping hands/absent both feet; asymmetric pupils, smaller right eye, pupillary light reflexes bilaterally absent, iris blood vessels dilated, bilateral cataracts; MRI brain abnormalities	FKRP	FKRP	2	4	Johan den Dunnen
00146831	20236121-Pat2	PubMed: VanReeuwijk 2010	4-generation family, sib of 20236121-Pat1	-	yes	Netherlands	-	-	-	-	-	WWS	pregnancy terminate (birth weight 530g), no visible eye abnormalities	FKRP	FKRP	2	1	Johan den Dunnen
00146856	20961758-Pat1	PubMed: Yis 2010	-	F	-	Greece;Croatia (Hrvatska)	-	-	-	-	-	WWS	CPK level 2236-6685	FKRP	FKRP, FKTN	3	2	Johan den Dunnen
00151380	-	PubMed: Buysse 2013	2-generation family, 4 affecteds (3 terminated pregnancies), unaffected heterozygous carrier parents	M	no	India	East	02y	-	-	-	WWS	hydrocephalus, Dandy-Walker malformation, retinal dysplasia, severe hypotonia, seizures; MRI typical WWS (ventricular enlargement, diffuse widening gyri, disorganization cortical sulci with areas of cobblestone lissencephaly along posterior aspects occipital lobes/temporal lobes; affected brain stem/cerebellum; CPK level 3180 u/L	B3GNT1	B3GNT1	2	4	Johan den Dunnen
00151435	?	-	-	F	-	United States	-	-	-	-	-	WWS	-	FKTN	FKTN	2	1	Tom Winder
00151436	Pat2	PubMed: Beltran-Valero 2003	-	-	-	-	-	-	-	-	-	WWS	-	FKTN	FKTN	2	1	Johan den Dunnen
00151437	Pat1	PubMed: Beltran-Valero 2003	first cousin parents	M	-	Turkey	-	-	-	-	-	WWS	-	FKTN	FKTN	2	1	Johan den Dunnen
00151467	?	-	-	F	-	United States	-	-	-	-	-	WWS	-	FKTN	FKTN	1	1	Tom Winder
00151481	-	PubMed: Godfrey 2007	-	-	-	-	-	-	-	-	-	WWS	contractures, hypertrophy, spine unaffected, retinal detachment, micropthalmia, MRI hydrocephaly, cerebellar hypoplasia, white matter abnormality, brainstem involvement, dysmorphic; CPK level 7000	FKTN	FKTN	2	1	Johan den Dunnen
00151488	patient1	{PMID18177472 :Cotarelo 2008}	-	F	no	Spain	-	5d	-	-	-	WWS	Dysmorphic facial features, brain and ocular changes; CPK level elevated	FKTN	FKTN	2	1	Rosário dos Santos
00151489	patient2	{PMID18177472 :Cotarelo 2008}	-	M	no	-	Jewish-Ashkenazi	-	-	-	-	WWS	Hydrocephaly; brain and ocular changes	FKTN	FKTN	2	1	Rosário dos Santos
00151491	?	PubMed: Manzini 2008, PubMed: Willer 2012	GM16192 Coriell Cell Repository	-	no	United States	white	-	-	-	-	WWS	brain and eye involvement, seizures; CPK level 2255	FKTN	FKTN	2	1	Rosário dos Santos
00151492	?	PubMed: Manzini 2008	-	-	-	United States	Hispanic	-	-	-	-	WWS	-	FKTN	FKTN	2	1	Rosário dos Santos
00151493	?	PubMed: Manzini 2008	-	-	no	-	Jewish-Ashkenazi	-	-	-	-	WWS	CPK level elevated	FKTN	FKTN	2	1	Rosário dos Santos
00151494	?	PubMed: Manzini 2008	-	-	no	-	Jewish-Ashkenazi	-	-	-	-	WWS	CPK level 39146	FKTN	FKTN	2	1	Rosário dos Santos
00151495	?	PubMed: Manzini 2008	-	-	no	-	Jewish-Ashkenazi	-	-	-	-	WWS	CPK level 9900	FKTN	FKTN	2	1	Rosário dos Santos
00151508	?	-	no variants in POMT1, POMT2, POMGnT1, FKRP, LARGE	-	-	(United States)	-	-	-	-	-	WWS	-	FKTN	FKTN	1	1	Tom Winder
00151509	?	-	-	-	-	Mexico	Hispanic	-	-	-	-	WWS	-	FKTN	FKTN	1	1	Tom Winder
00151510	?	-	-	-	-	United States	-	-	-	-	-	WWS	-	FKTN	FKTN	2	1	Tom Winder
00152151	-	PubMed: Taniguchi 2003	-	F	-	Italy	-	-	-	-	-	WWS	atypical phenotype; congenital muscular dystrophy, retinal dysplasia, cerebellar vermis hypoplasia, type II lissencephaly, hydrocephalus	POMGNT1	POMGNT1	2	1	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	POMGNT1	POMGNT1	2	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	POMGNT1	POMGNT1	1	1	Johan den Dunnen
00152235	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152237	-	PubMed: Currier 2005	-	-	-	United States	white	-	-	-	-	WWS	-	POMT1	POMT1	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)	POMT1	POMT1	1	1	Johan den Dunnen
00152239	-	PubMed: van Reeuwijk 2006	-	-	-	Qatar	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152240	-	PubMed: Yis 2007	-	M	-	Turkey	-	-	-	-	-	WWS	CPK 1850	POMT1	POMT1	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	POMT1	POMT1	5	1	Johan den Dunnen
00152242	-	PubMed: van Reeuwijk 2006	-	-	-	Ireland	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152243	-	-	-	M	-	United States	-	-	-	-	-	WWS	-	POMT1	POMT1	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 / ?	POMT1	POMT1	1	1	Johan den Dunnen
00152245	-	PubMed: van Reeuwijk 2006	-	-	-	Pakistan	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152246	-	PubMed: van Reeuwijk 2006	2 affecteds	-	-	Lebanon	-	-	-	-	-	WWS	-	POMT1	POMT1	1	2	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	POMT1	POMT1	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	POMT1	POMT1	1	1	Johan den Dunnen
00152254	-	PubMed: van Reeuwijk 2006	-	-	-	Turkey	-	-	-	-	-	WWS	-	POMT1	POMT1	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	POMT1	POMT1	2	1	Johan den Dunnen
00152260	-	PubMed: van Reeuwijk 2006	-	-	-	Netherlands	-	-	-	-	-	WWS	-	POMT1	POMT1	2	1	Johan den Dunnen
00152261	-	PubMed: van Reeuwijk 2006	-	-	-	India	-	-	-	-	-	WWS	-	POMT1	POMT1	2	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	POMT1	POMT1	1	2	Johan den Dunnen
00152272	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152288	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152289	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152290	-	PubMed: Currier 2005	-	-	-	Italy	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152291	-	PubMed: Currier 2005	-	-	-	-	-	-	-	-	-	WWS	-	POMT1	POMT1	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	POMT1	POMT1	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	POMT1	POMT1	1	1	Johan den Dunnen
00152339	-	-	-	M	-	-	Middle East	-	-	-	-	WWS	-	POMT1	POMT1	4	1	Tom Winder
00152349	-	-	-	-	-	United States	-	-	-	-	-	WWS	-	POMT1	POMT1	2	1	Tom Winder
00152353	-	PubMed: Bouchet 2007	-	-	-	France	-	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Johan den Dunnen
00152362	-	PubMed: Bouchet 2007, PubMed: Bouchet 2007	aborted fetus (21w)	-	yes	France	-	<0y	-	-	-	WWS	pregnancy terminated for hydocephaly with hypoplastic cerebellar vermis. Neuropathology; brain abnormalities LIS type II, dilated ventricles, meningocele, ocular asymmetry	POMT1	POMT1	4	1	Johan den Dunnen
00152363	-	PubMed: Bouchet 2007, PubMed: Bouchet 2007	aborted fetus (20w), related to F5f2, F5f3	-	no	France	-	<0y	-	-	-	WWS	pregnancy terminated for dilated cerebral ventricles, fusion cerebral hemispheres, bilateral cleft lip/palate	POMT1	POMT1	3	1	Johan den Dunnen
00152364	-	PubMed: Bouchet 2007, PubMed: Bouchet 2007	aborted fetus (20w), related to F5f1, F5f3	-	no	France	-	<0y	-	-	-	WWS	pregnancy terminated for exencephaly associated to large encephalocele with prominent cortical dysplasia	POMT1	POMT1	3	1	Johan den Dunnen
00152365	-	PubMed: Bouchet 2007, PubMed: Bouchet 2007	aborted fetus (20w), related to F5f1, F5f2	-	no	France	-	<0y	-	-	-	WWS	pregnancy terminated for hydrocephaly, dilated cerebral ventricles, bilateral cleft lip/palate	POMT1	POMT1	3	1	Johan den Dunnen
00152366	-	PubMed: Bouchet 2007	aborted fetus (41w)	-	yes	France	-	<0y	-	-	-	WWS	pregnancy terminated for holoprosencephaly, major hydrocephaly. Dysmorphic features; macrocephaly with wide convex forehead, large fontanel, bilateral cleft lip, no ocular anomaly Neuropathology; LIS type II, muscular dystrophy	POMT1	POMT1	8	1	Johan den Dunnen
00152372	-	PubMed: Vasjar, 2008	Cleft lip and palate	M	-	-	-	9m	-	-	-	WWS	Hypotonia, hydrocephalus, brain and ocular changes; CPK 4755	POMT1	POMT1	2	1	Rosário dos Santos
00152373	-	PubMed: Manzini 2008	-	-	yes	Saudi Arabia	-	-	-	-	-	WWS	Brain and ocular involvement; seizures and congenital hip dislocation; CPK 1545; onset neonatal	POMT1	POMT1	2	1	Rosário dos Santos
00152374	-	PubMed: Judas 2009	-	M	-	Croatia (Hrvatska)	Gypsy	2y6m	-	-	-	WWS	no signs of psychomotor development, gradual development hypertensive hydrocephalus; eye dense opacities of anterior parts, glaucoma, buphthalmus; cysts both kidneys; CPK 5292	POMT1	POMT1	2	1	Johan den Dunnen
00152375	-	PubMed: Manzini 2008	sib of patient Fam2-b	-	yes	Saudi Arabia	-	-	-	-	-	WWS	Brain and ocular involvement; CPK 1565; onset neonatal	POMT1	POMT1	2	1	Rosário dos Santos
00152376	-	PubMed: Manzini 2008	sib of patient Fam2-a	-	yes	Saudi Arabia	-	-	-	-	-	WWS	Brain and ocular involvement; seizures; CPK 787; onset neonatal	POMT1	POMT1	2	1	Rosário dos Santos
00152377	-	PubMed: Manzini 2008	-	-	no	United States	African	-	-	-	-	WWS	Brain and ocular involvement; seizures, contractures and polydactyly; onset neonatal	POMT1	POMT1	1	1	Rosário dos Santos
00152378	-	PubMed: Manzini 2008	-	-	no	United States	African	-	-	-	-	WWS	Brain and ocular involvement; seizures, contractures and polydactyly; onset neonatal	POMT1	POMT1	1	1	Rosário dos Santos
00152379	-	PubMed: Manzini 2008	-	-	yes	Israel	Arab	-	-	-	-	WWS	Brain and ocular involvement; contractures, bilateral kidney dysplasia; onset neonatal	POMT1	POMT1	1	1	Rosário dos Santos
00152380	-	PubMed: Manzini 2008	-	-	yes	Israel	Arab	-	-	-	-	WWS	Brain and ocular involvement; contractures, bilateral kidney dysplasia; onset neonatal	POMT1	POMT1	1	1	Rosário dos Santos
00152381	-	PubMed: Manzini 2008	-	-	yes	Bahrain	-	-	-	-	-	WWS	Brain and ocular involvement; hydronephrosis; onset neonatal	POMT1	POMT1	1	1	Rosário dos Santos
00152382	-	PubMed: Manzini 2008	-	-	yes	Bahrain	-	-	-	-	-	WWS	Brain and ocular involvement; hydronephrosis; onset neonatal	POMT1	POMT1	1	1	Rosário dos Santos
00152383	-	PubMed: Manzini 2008	-	-	yes	United States	Hispanic	-	-	-	-	WWS	Brain and ocular involvement; CPK 5000; onset neonatal	POMT1	POMT1	1	1	Rosário dos Santos
00152384	-	PubMed: Manzini 2008	-	-	yes	United States	Hispanic	-	-	-	-	WWS	Brain and ocular involvement; CPK 5000; onset neonatal	POMT1	POMT1	1	1	Rosário dos Santos
00152386	-	-	-	F	-	(United States)	-	-	-	-	-	WWS	-	POMT1	POMT1	2	1	Tom Winder
00152387	-	-	-	-	-	(Israel)	Libian;Iraqi	-	-	-	-	WWS	-	POMT1	POMT1	2	1	Tom Winder
00152388	-	-	-	-	-	(United States)	-	-	-	-	-	WWS	-	POMT1	POMT1	2	1	Tom Winder
00152390	-	-	-	-	-	(United States)	Arab	-	-	-	-	WWS	-	POMT1	POMT1	1	1	Tom Winder
00152395	-	PubMed: Willer 2012	cell line	-	-	-	-	-	-	-	-	WWS	-	POMT1	POMT1	2	1	Johan den Dunnen
00152396	-	-	-	F	-	United States	-	-	-	-	-	WWS	-	POMT1	POMT1	2	1	Tom Winder
00152397	-	-	-	-	-	United States	white	-	-	-	-	WWS	type II lissencephaly, hydrocephalus,	POMT1	POMT1	2	1	Tom Winder
00152432	-	PubMed: van Reeuwijk 2005	first-cousin parents	M	-	Pakistan	-	-	-	-	-	WWS	-	POMT2	POMT2	2	1	Johan den Dunnen
00152433	-	PubMed: van Reeuwijk 2005	first cousin parents	M	-	India	Bengali	-	-	-	-	WWS	-	POMT2	POMT2	2	1	Johan den Dunnen
00152434	-	PubMed: van Reeuwijk 2005	niece/uncle parents	F	yes	Morocco	-	-	-	-	-	WWS	CPK 12144	POMT2	POMT2	4	1	Johan den Dunnen
00152469	-	PubMed: Manya 2008	-	-	-	-	-	2y6m	-	-	-	WWS	severe	POMT2	POMT2	2	1	Johan den Dunnen
00152492	-	PubMed: Manzini 2008	-	-	-	Palestine	-	-	-	-	-	WWS	Brain and ocular involvement; CPK elevated; onset neonatal	POMT2	POMT2	2	1	Rosário dos Santos
00152493	-	PubMed: Manzini 2008	-	-	-	United States	white	-	-	-	-	WWS	Brain and ocular involvement; tower skull deformity; CPK 2000; onset neonatal	POMT2	POMT2	2	1	Rosário dos Santos
00152494	-	PubMed: Manzini 2008	-	-	-	Saudi Arabia	-	-	-	-	-	WWS	Brain and ocular involvement; hydronephrosis; CPK 1666; onset neonatal	POMT2	POMT2	2	1	Rosário dos Santos
00152610	-	PubMed: van Reeuwijk 2007	unaffected carrier parents second degree cousins; brother of 17436019.1	M	-	Saudi Arabia	-	-	-	-	-	WWS	phenotype see paper; CPK 180x	LARGE	LARGE	1	1	Johan den Dunnen
00152611	-	PubMed: van Reeuwijk 2007	unaffected carrier parents second degree cousins; sister of 17436019.2	F	-	Saudi Arabia	-	-	-	-	-	WWS	phenotype see paper; CPK 10-286x	LARGE	LARGE	1	1	Johan den Dunnen
00152624	-	PubMed: Clement	-	-	-	-	-	-	-	-	-	WWS	contractures, retinal detachmenty, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, lissencephaly, feeding difficulties, RIP 8w; ?microcephaly; CPK 5700; intellectual disability; no motor milestones	LARGE	LARGE	2	1	Johan den Dunnen

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Global Variome shared LOVD

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