Disease #02496 (DSMA1 (atrophy, muscular, spinal, distal, type 1 (DSMA-1, alias SMARD-1)), OMIM:604320)

Official abbreviation	DSMA1
Name	atrophy, muscular, spinal, distal, type 1 (DSMA-1, alias SMARD-1)
OMIM ID	604320
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	68
Phenotype entries for this disease	69
Associated with 1 gene	IGHMBP2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
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.

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'

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68 entries on 1 page. Showing entries 1 - 68.

Legend

How to query

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
00029722	-	-	-	M	-	-	-	-	-	-	-	DSMA1	-	-	-	-	1	Claus Lenski
00080845	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	DSMA1	Neuronopathy, distal hereditary motor, type VI (OMIM:604320)	IGHMBP2	IGHMBP2	1	1	Daniel Trujillano
00081008	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	DSMA1	Neuronopathy, distal hereditary motor, type VI (OMIM:604320)	IGHMBP2	IGHMBP2	1	1	Daniel Trujillano
00210418	F4; 18; 7	PubMed: Grohmann, 2001	affected sibling	F	no	Germany	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	3	2	Jorge Oliveira
00210419	F5; 19	PubMed: Grohmann, 2001	-	M	yes	Lebanon	-	-	-	-	-	DSMA1	Bilateral equinovarus foot	IGHMBP2	IGHMBP2	4	1	Jorge Oliveira
00210420	F6; 25; 8	PubMed: Grohmann, 2001	-	F	yes	Italy	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	3	1	Jorge Oliveira
00210421	F3; 7; 6	PubMed: Grohmann, 2001	-	F	yes	Turkey	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	3	1	Jorge Oliveira
00210422	F2; 10	PubMed: Grohmann, 2001	Four affected siblings	F	yes	Lebanon	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	5	5	Jorge Oliveira
00210423	F1; 4; 1	PubMed: Grohmann, 2001; PubMed: Grohmann, 2003; PubMed: Diers, 2005	-	M	no	Italy	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210424	1	PubMed: Grohmann, 2003	-	M	-	Australia	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210425	2	PubMed: Grohmann, 2003	-	F	-	Israel	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210426	3	PubMed: Grohmann, 2003	-	M	-	Bangladesh	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210427	5; 2	PubMed: Grohmann, 2003; PubMed: Diers, 2005	-	F	-	Ghana	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210428	6	PubMed: Grohmann, 2003	-	M	-	Ghana	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210429	8	PubMed: Grohmann, 2003	-	M	-	Austria	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210430	9	PubMed: Grohmann, 2003	-	M	-	Germany	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210431	11	PubMed: Grohmann, 2003	-	M	-	Germany	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210432	12	PubMed: Grohmann, 2003	-	F	-	Australia	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210433	13	PubMed: Grohmann, 2003	-	M	-	Australia	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210434	14	PubMed: Grohmann, 2003	-	F	-	Germany	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210435	15	PubMed: Grohmann, 2003	-	F	-	Spain	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210436	16	PubMed: Grohmann, 2003	-	M	-	Germany	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210437	17	PubMed: Grohmann, 2003	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210438	20	PubMed: Grohmann, 2003	-	F	-	Germany	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210439	21	PubMed: Grohmann, 2003	-	F	-	Hungary	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210440	22; P2	PubMed: Grohmann, 2003; PubMed: Guenther, 2004	-	F	no	Belgium	-	>9y	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	1	1	Jorge Oliveira
00210441	23	PubMed: Grohmann, 2003	-	M	-	Morocco	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210442	24	PubMed: Grohmann, 2003	-	M	-	Turkey	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210443	26	PubMed: Grohmann, 2003	-	F	-	Germany	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210444	27	PubMed: Grohmann, 2003	-	M	-	-	African	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210445	28	PubMed: Grohmann, 2003	-	F	-	Germany	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210446	29	PubMed: Grohmann, 2003	-	M	-	Australia	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210447	1	PubMed: Pitt, 2003	-	M	-	-	-	4m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210448	2	PubMed: Pitt, 2003	-	-	-	-	-	3m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210449	6	PubMed: Pitt, 2003	-	-	-	-	-	3m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210450	7	PubMed: Pitt, 2003	-	-	-	Bahrain	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210451	8	PubMed: Pitt, 2003	-	-	-	-	-	6m15d	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210452	9	PubMed: Pitt, 2003	-	-	-	-	-	9m15d	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210453	12	PubMed: Pitt, 2003	-	-	-	-	-	3m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210454	13	PubMed: Pitt, 2003	affected sister	-	-	-	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210455	P5	PubMed: Maystadt, 2004	-	-	-	-	-	3m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210456	P6	PubMed: Maystadt, 2004	-	-	-	-	-	5m15d	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210457	P11	PubMed: Maystadt, 2004	-	-	-	-	-	13m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210458	P27	PubMed: Maystadt, 2004	-	-	-	-	-	6m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210459	P28	PubMed: Maystadt, 2004	-	-	-	-	-	>2y	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210460	623SMA	-	-	F	yes	Portugal	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	17	1	Jorge Oliveira
00210461	P1	PubMed: Guenther, 2004	-	M	no	Italy	-	>6y	-	-	-	DSMA1	5y-FVC 62%; walk-17m; no walk-3y	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210462	1	PubMed: Guenther, 2007	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210463	2	PubMed: Guenther, 2007	-	-	-	Italy	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210464	3	PubMed: Guenther, 2007	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210465	4	PubMed: Guenther, 2007	-	-	-	Viet Nam	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210466	5	PubMed: Guenther, 2007	-	-	-	South Africa	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210467	6	PubMed: Guenther, 2007	-	-	-	United States	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210468	7	PubMed: Guenther, 2007	-	-	-	United States	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210469	8	PubMed: Guenther, 2007	-	-	-	Sweden	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210470	9	PubMed: Guenther, 2007	-	-	-	Italy	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210471	10	PubMed: Guenther, 2007	-	-	-	Croatia (Hrvatska)	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210472	Case 1	PubMed: Giannini, 2006	-	M	no	(Italy)	-	5m	-	-	-	DSMA1	neonatal onset	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210473	case 2	PubMed: Giannini, 2006	-	M	-	(Italy)	-	>20m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210474	patient	PubMed: Wong, 2006	-	M	no	China	-	>3y	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210475	case 1	PubMed: Joseph, 2009	affected brother (patient 22939)	F	-	(United Kingdom (Great Britain))	-	>13y	-	-	-	DSMA1	Atypical SMARD1 presentation; walk-27m	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210476	case 2	PubMed: Joseph, 2009	affected sister (patient 22938)	M	-	(United Kingdom (Great Britain))	-	6m	-	-	-	DSMA1	tongue fasciculation	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210477	patient	PubMed: Fanos, 2010	clinically affected sister	F	-	Italy	Sardinian	6m	-	-	-	DSMA1	Giant cell hepatitis; intrauterine growth retardation	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210478	patient	PubMed: Pierson, 2011	-	M	no	(United States)	-	>20y	-	-	-	DSMA1	Mild facial diplegia; hypertension; cholelithiasis; excessive sweating; no motor ability	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210479	patient	PubMed: AlSaman, 2010	-	F	yes	Saudi Arabia	-	2y	-	-	-	DSMA1	Mild scoliosis and facial weakness, and minimal tongue fasciculation; bilateral equinovarus feet; excessive sweating; sit-7m	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210480	patient 1	PubMed: Guenther, 2009	-	F	no	(Germany)	white	-	-	-	-	DSMA1	infantile form, bilateral varus foot (at birth); 11y-FVC 47%; sit-12m,no walk-4y, no sit-10y	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00210481	patient 2	PubMed: Guenther, 2009	-	M	no	(Germany)	white	>23m	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Jorge Oliveira
00306144	80	-	-	M	-	China	-	-	-	-	-	DSMA1	-	IGHMBP2	IGHMBP2	2	1	Sha Hong

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How to query

Global Variome shared LOVD

COL5A1 (collagen type V alpha 1 chain)