Disease #05100 (UCMD (dystrophy, muscular, congenital, Ullrich (UCMD)))

Official abbreviation	UCMD
Name	dystrophy, muscular, congenital, Ullrich (UCMD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	179
Phenotype entries for this disease	175
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-11-08 10:59:55 +01:00 (CET)
Date last edited	2017-07-28 15:01:18 +02:00 (CEST)

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.

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.

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

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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
00108736	MYO-SEQ Pat35	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Alison Blain
00108754	P3	PubMed: Giusti 2005	-	-	-	Italy	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	2	1	Anne Lampe
00108756	?	PubMed: Lampe 2005	heterozygous parents	-	-	-	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108757	P2	PubMed: Giusti 2005	-	-	-	Turkey	-	-	-	-	-	UCMD	-	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	9	1	Anne Lampe
00108764	16278855-PatA	PubMed: Pepe 2005	-	F	no	France	-	-	-	-	-	UCMD	see paper; ..., mild	COL6A1	COL6A1	1	1	Anne Lampe
00108766	?	PubMed: Pan 2003	-	M	-	-	-	>12y	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108770	Pat45	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	mild	COL6A1, COL6A2	COL6A1, COL6A2	2	1	Johan den Dunnen
00108771	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	2	Johan den Dunnen
00108772	P4	PubMed: Giusti 2005	-	-	-	Italy	-	-	-	-	-	UCMD	mild	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	17	1	Anne Lampe
00108773	P1	PubMed: Giusti 2005	-	-	yes	Turkey	-	-	-	-	-	UCMD	-	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	8	1	Anne Lampe
00108775	P5	PubMed: Giusti 2005	-	-	-	Belgium	-	-	-	-	-	UCMD	mild	COL6A1, COL6A2, COL6A3	COL6A1, COL6A2, COL6A3	12	1	Anne Lampe
00108779	?	PubMed: Baker 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108780	-	PubMed: Lucarini 2005, OMIM:var0007	mother heterozygous	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Anne Lampe
00108781	-	PubMed: Camacho 2001, OMIM:var0002	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Johan den Dunnen
00108782	-	PubMed: Ishikawa 2002	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Johan den Dunnen
00108783	-	PubMed: Camacho 2001, OMIM:var0004	2 brothers	-	-	Italy	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	2	Johan den Dunnen
00108784	-	PubMed: Higuchi 2001, OMIM:var0006	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108786	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108787	-	PubMed: Ishikawa 2004	-	-	-	-	-	-	-	-	-	UCMD	mild	COL6A2	COL6A2	2	1	Johan den Dunnen
00108788	-	PubMed: Camacho 2001, OMIM:var0003	-	-	-	Italy	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Johan den Dunnen
00108793	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Johan den Dunnen
00108794	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108795	Pat47	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	mild	COL6A1, COL6A2	COL6A1, COL6A2	2	1	Johan den Dunnen
00108796	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Johan den Dunnen
00108797	-	PubMed: Baker 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Johan den Dunnen
00108799	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2, COL6A3	COL6A2, COL6A3	4	1	Johan den Dunnen
00108801	15563506.b	PubMed: Baker 2005	child of 15563506.a	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108803	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108804	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108805	-	PubMed: Demir 2002, OMIM:var0003	-	-	-	Italy	-	-	-	-	-	UCMD	mild	COL6A3	COL6A3	2	1	Johan den Dunnen
00108806	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	mild	COL6A1	COL6A1	1	1	Johan den Dunnen
00108808	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108814	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108816	-	PubMed: Baker 2005, OMIM:var0004	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108817	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	3	Johan den Dunnen
00108819	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Johan den Dunnen
00108820	-	PubMed: Demir 2002, OMIM:var0002	brother and 2 sisters	-	-	Morocco	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	2	3	Johan den Dunnen
00108821	-	PubMed: Demir 2002	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	2	1	Johan den Dunnen
00108831	?	PubMed: Kawahara	-	-	-	-	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Johan den Dunnen
00108841	?	PubMed: Baker 2007	-	M	-	United States	-	-	-	-	-	UCMD	CPK normal	COL6A2	COL6A2	1	1	Johan den Dunnen
00108842	?	PubMed: Baker 2007	-	M	-	Australia	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Johan den Dunnen
00108843	?	PubMed: Baker 2007	-	M	-	Australia	-	-	-	-	-	UCMD	CPK normal	COL6A3	COL6A3	1	1	Johan den Dunnen
00108849	?	-	-	M	-	(United States)	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108851	?	-	-	-	-	(United States)	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Tom Winder
00108852	?	-	-	F	-	Saudi Arabia	Arab	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Tom Winder
00108856	?	-	-	M	-	(United States)	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Tom Winder
00108857	?	-	-	M	-	(United States)	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Tom Winder
00108860	?	-	-	-	-	(United States)	Asian	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108863	?	-	-	-	-	United States	-	-	-	-	-	UCMD	proximall weakness; contractures; CPK ~400	COL6A3	COL6A3	1	1	Tom Winder
00108867	?	-	-	-	-	United States	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108868	?	-	-	-	-	United States	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Tom Winder
00108869	?	-	-	-	-	Saudi Arabia	Arab	-	-	-	-	UCMD	-	COL6A3	COL6A3	2	1	Tom Winder
00108870	?	-	-	-	-	Saudi Arabia	Arab	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108871	?	-	-	-	-	United States	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108873	?	-	-	M	-	United States	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	2	1	Tom Winder
00108874	?	-	-	F	-	United States	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108875	?	-	-	M	-	United States	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Tom Winder
00108877	?	L Medne ASHG 2010 A1669	-	?	-	-	-	-	-	-	-	UCMD	MRI-brain white matter lesions (numerous patchy); delayed motor skills; roll-6m, sit-12m, c-12m, walk-4y3m	COL6A2	COL6A2	2	1	Johan den Dunnen
00108879	?	-	-	F	-	United States	-	-	-	-	-	UCMD	-	COL6A1, COL6A3	COL6A1, COL6A3	3	1	Tom Winder
00108883	?	-	-	-	-	United States	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Tom Winder
00108884	?	-	-	-	-	United States	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108885	?	-	-	F	-	United States	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	2	1	Tom Winder
00108889	?	-	-	M	-	United States	Hispanic	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108890	?	-	-	M	-	United States	-	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Tom Winder
00108892	?	-	-	F	-	Saudi Arabia	Arab	-	-	-	-	UCMD	-	COL6A2	COL6A2	1	1	Tom Winder
00108893	?	-	-	M	-	United States	-	-	-	-	-	UCMD	-	COL6A1	COL6A1	1	1	Tom Winder
00108896	?	-	-	M	?	Saudi Arabia	Arab	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Tom Winder
00108897	?	-	-	F	-	United States	-	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Tom Winder
00108900	?	-	-	F	-	Saudi Arabia	Arab	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Tom Winder
00108905	?	-	-	M	-	Saudi Arabia	Arab	-	-	-	-	UCMD	-	COL6A3	COL6A3	1	1	Tom Winder
00108908	?	-	-	M	-	Saudi Arabia	Arab	-	-	-	-	UCMD	-	COL6A2	COL6A2	2	1	Tom Winder
00109195	?	-	-	-	yes	Saudi Arabia	Arab	-	-	-	-	UCMD	hypotonia, hyperextensible joints	COL6A1	COL6A1	2	1	Tom Winder
00109196	Gly_1	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	part time wheelchair (8y); 7y-first wheelchair use; walk-24m; wheelchair-bound >8y	COL6A1	COL6A1	1	1	Russell Butterfield
00109200	Gly_5	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; ambulatory with assistive devices (7y); wheelchair-bound >7y	COL6A1	COL6A1	1	1	Russell Butterfield
00109201	Gly_6	PubMed: Butterfield	-	M	-	(United States)	-	-	-	-	-	UCMD	intermediate; walk-14m; wheelchair-bound >10y	COL6A1	COL6A1	1	1	Russell Butterfield
00109205	Gly_10	PubMed: Butterfield	twin sibling is Gly_11	M	-	(United States)	-	-	-	-	-	UCMD	intermediate; ambulatory with assistive devices (4y); walk-24m; wheelchair-bound >4y	COL6A1	COL6A1	1	1	Russell Butterfield
00109206	Gly_11	PubMed: Butterfield	twin sibling is Gly_10	M	-	(United States)	-	-	-	-	-	UCMD	intermediate; ambulatory with assistive devices (4y); walk-24m; wheelchair-bound >4y	COL6A1	COL6A1	1	1	Russell Butterfield
00109207	Gly_12	PubMed: Butterfield	-	F	-	(United States)	-	>12y	-	-	-	UCMD	ambulatory with assistive devices (12y); 6y-first wheelchair use; walk-12m; wheelchair-bound 6y	COL6A1	COL6A1	1	1	Russell Butterfield
00109208	Gly_13	PubMed: Butterfield	-	M	-	(United States)	-	-	-	-	-	UCMD	wheelchair-bound 15y	COL6A1	COL6A1	1	1	Russell Butterfield
00109209	Gly_14	PubMed: Butterfield	-	F	-	(United States)	-	>13y	-	-	-	UCMD	intermediate; ambulatory with assistive devices (13y); 9y-first wheelchair use; walk-12m; wheelchair-bound 9y	COL6A1, COL6A2	COL6A1, COL6A2	2	1	Russell Butterfield
00109210	Gly_15	PubMed: Butterfield	-	M	-	(United States)	-	-	-	-	-	UCMD	severe, early onset; never walked; wheelchair-bound 6y	COL6A1	COL6A1	1	1	Russell Butterfield
00109212	Gly_17	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; first wheelchair use 9.5y; walk-18m; wheelchair-bound 13y	COL6A1	COL6A1	1	1	Russell Butterfield
00109218	Gly_23	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; ambulatory with assistive devices (7y); walk-17m; wheelchair-bound >7y	COL6A1, COL6A3	COL6A1, COL6A3	2	1	Russell Butterfield
00109219	Gly_24	PubMed: Butterfield	-	M	-	(United States)	-	-	-	-	-	UCMD	intermediate; ambulatory with assistive devices (10y); walk-17m; wheelchair-bound >10y	COL6A1	COL6A1	1	1	Russell Butterfield
00109220	Gly_25	PubMed: Butterfield	-	F	-	(United States)	-	>18y	-	-	-	UCMD	wheelchair-bound 10y	COL6A1	COL6A1	1	1	Russell Butterfield
00109223	Gly_28	PubMed: Butterfield	2-generation family, 1 affected	M	-	(United States)	-	-	-	-	-	UCMD	intermediate; part time wheelchair (23y); walk-20m; wheelchair-bound >23y	COL6A1	COL6A1	1	2	Russell Butterfield
00109226	Gly_31	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; walk-14m; wheelchair-bound >7y	COL6A1	COL6A1	1	1	Russell Butterfield
00109229	Gly_34	PubMed: Butterfield	-	M	-	(United States)	-	-	-	-	-	UCMD	intermediate; wheelchair-bound >12y	COL6A1, COL6A2	COL6A1, COL6A2	2	1	Russell Butterfield
00109231	Gly_36	PubMed: Butterfield	mother is Gly_37	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; walk-13m; wheelchair-bound >10y	COL6A1	COL6A1	1	1	Russell Butterfield
00109233	Gly_38	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; ambulatory with assistive devices (41y); walk-24m; wheelchair-bound >41y	COL6A1	COL6A1	1	1	Russell Butterfield
00109234	Gly_39	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	ambulatory with assistive devices (9y); 8y-first wheelchair use; walk-16m; wheelchair-bound >9y	COL6A1	COL6A1	1	1	Russell Butterfield
00109242	Gly_47	PubMed: Butterfield	-	F	-	(United States)	-	>17y	-	-	-	UCMD	intermediate; 14y-first wheelchair use; walk-12m; wheelchair-bound 15y	COL6A2	COL6A2	2	1	Russell Butterfield
00109244	Gly_49	PubMed: Butterfield	-	M	-	(United States)	-	-	-	-	-	UCMD	first wheelchair use 8y; walk-18m; wheelchair-bound >8y	COL6A2, COL6A3	COL6A2, COL6A3	2	1	Russell Butterfield
00109246	Gly_51	PubMed: Butterfield	-	M	-	(United States)	-	-	-	-	-	UCMD	intermediate; walk-15m; wheelchair-bound >27y	COL6A3	COL6A3	1	1	Russell Butterfield
00109249	Gly_54	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; ambulatory with assistive devices (19y); wheelchair-bound >19y	COL6A3	COL6A3	1	1	Russell Butterfield
00109250	Gly_55	PubMed: Butterfield	-	M	-	(United States)	-	-	-	-	-	UCMD	severe, early onset; never walked; wheelchair-bound 3y	COL6A3	COL6A3	1	1	Russell Butterfield
00109252	Gly_57	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	part time wheelchair (17y); 8y-first wheelchair use; walk-24m; wheelchair-bound >17y	COL6A3	COL6A3	1	1	Russell Butterfield
00109256	Gly_61	PubMed: Butterfield	mother is Gly_62	F	-	(United States)	-	-	-	-	-	UCMD	ambulatory with assistive devices (5y); walk-18m; wheelchair-bound >5y	COL6A3	COL6A3	2	1	Russell Butterfield
00109260	Gly_65	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; walk-18m; wheelchair-bound >7y	COL6A1	COL6A1	1	1	Russell Butterfield
00109261	Gly_66	PubMed: Butterfield	-	F	-	(United States)	-	-	-	-	-	UCMD	intermediate; ambulatory with assistive devices (7y); walk-11m; wheelchair-bound >7y	COL6A1	COL6A1	1	1	Russell Butterfield

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

DPF1 (D4, zinc and double PHD fingers family 1)