Disease #00501 (SMA3 (atrophy, muscular, spinal, type III (SMA-3, juvenile, Wohlfart-Kugelberg-Welander disease)), OMIM:253400)

Official abbreviation	SMA3
Name	atrophy, muscular, spinal, type III (SMA-3, juvenile, Wohlfart-Kugelberg-Welander disease)
OMIM ID	253400
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	25
Phenotype entries for this disease	24
Associated with 2 genes	SMN1, SMN2
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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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
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Andorra
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Angola
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Bouvet Island
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Brazil
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
(Chile)
China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Cook Islands
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Guinea
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Italy
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
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Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Laos
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Latvia
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Lesotho
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Liberia
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Libya
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Malawi
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Malaysia
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Mali
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Poland
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Polynesia, French
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Romania
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Russian Federation
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San Marino
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Singapore
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Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
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Suriname
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Swaziland
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Sweden
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Switzerland
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Syria
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Tunisia
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Turkey
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Turkmenistan
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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United Kingdom (Great Britain)
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Uruguay
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Virgin Islands (US)
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Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
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Yugoslavia
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Zaire
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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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\|	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
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
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Example	Matches
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25 entries on 1 page. Showing entries 1 - 25.

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
00116708	-	PubMed: Parsons 1998	2 unrelated patients	-	-	United States	-	-	-	-	-	SMA3	-	SMN1	SMN1	3	2	Johan den Dunnen
00116709	-	-	-	F	no	(China)	chinese	-	-	-	-	SMA3	-	SMN1	SMN1	1	1	Fang Song
00116712	-	PubMed: Gambardella 1998	del NAIP exon 5	M	-	Italy	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116715	-	PubMed: Hahnen 1997	-	-	-	Germany	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	2	Johan den Dunnen
00116716	-	PubMed: Hahnen 1997	-	-	-	Australia	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116718	-	PubMed: Lorson 1999	-	-	-	United States	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116721	-	PubMed: Sossi 2001	-	F	-	Italy	-	-	-	-	-	SMA3	WB smaller SMN1	SMN1	SMN1	2	1	Johan den Dunnen
00116724	-	PubMed: Bussaglia 1995, PubMed: Cusco 2003	8 patients (2 early onset)	-	-	Spain	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	8	Johan den Dunnen
00116727	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116728	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116730	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116738	-	PubMed: Wirth 1999	-	-	-	-	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116739	-	PubMed: Wirth 1999	-	-	-	-	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116750	-	PubMed: Rochette 1997	-	-	-	-	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116751	-	PubMed: Martin 2002	-	-	-	-	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116753	-	PubMed: McAndrew 1997	-	-	-	-	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116757	-	PubMed: Skordis 2001	-	-	-	-	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116763	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA3	-	SMN1	SMN1	2	1	Johan den Dunnen
00116772	-	PubMed: Yamamoto 2013	-	M	no	Japan	Japanese	-	-	-	-	SMA3	11y-pain/heaviness in legs during exercise; later developed symptoms including waddling gait, muscle weakness and atrophy in quadriceps, attenuated patellar tendon reflex; able to walk	SMN1	SMN1	2	1	Hisahide Nishio
00116777	-	PubMed: Yamamoto 2013	-	F	-	Japan	-	>19y	-	-	-	SMA3	13y-muscle weakness during swimming exercise; gradually lost running ability, could no longer run as fast as classmates in high school days	SMN1	SMN1	2	1	Hisahide Nishio
00116778	-	-	-	M	-	China	chinese	-	-	-	-	SMA3	-	SMN1	SMN1	1	1	Fang Song
00116779	-	-	-	F	-	China	Chinese	-	-	-	-	SMA3	-	SMN1	SMN1	1	1	Fang Song
00150121	-	-	-	M	yes	-	-	-	-	-	-	SMA3	-	SMN1	-	-	1	Laura Alías
00168073	-	-	-	F	no	Greece	-	-	-	-	-	SMA3	-	SMN1	SMN1	1	2	Kyriaki Kekou
00168074	-	-	-	M	no	Greece	-	-	-	-	-	SMA3	8y deterioration in specific muscle groups	SMN1	SMN1	1	1	Kyriaki Kekou

Legend

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