Disease #05123 (SMA (atrophy, muscular, spinal (SMA)))

Official abbreviation	SMA
Name	atrophy, muscular, spinal (SMA)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	65
Phenotype entries for this disease	64
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-01-24 01:41:54 +01:00 (CET)
Date last edited	N/A

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
(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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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
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^	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'
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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
<=	Numeric	<=23	all entries lower than, or equal to, 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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65 entries on 1 page. Showing entries 1 - 65.

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
00057786	-	-	family, 2 patients	F	yes	Pakistan	Pakistan	>30y	-	-	-	SMA	no death in teenage years, no myoclonic epilepsy, no serious pulmonary involvement; CPK: normal; waddling gait, limb weakness	ASAH1	ASAH1	2	2	Mirella Filocamo
00078523	-	-	-	M	yes	Iran	Asian	?	-	-	-	SMA	Parkinsonism	DNAJB2	DNAJB2	1	1	Coro Paisan-Ruiz
00116710	-	-	165 unrelated families Portugal	M	-	Portugal	-	-	-	-	-	SMA	-	SMN1	SMN1	2	165	Rosário dos Santos
00116711	-	PubMed: Ogino 2004	-	-	-	-	-	-	-	-	-	SMA	SMA 1, 2, 3	SMN1	SMN1	2	1	Johan den Dunnen
00116729	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA	SMA 1/2	SMN1	SMN1	2	1	Johan den Dunnen
00116733	-	-	-	M	-	Portugal	-	-	-	-	-	SMA	-	SMN1	SMN1	2	1	Rosário dos Santos
00116734	-	-	-	M	-	Portugal	-	-	-	-	-	SMA	-	SMN1	SMN1	2	1	Rosário dos Santos
00116735	-	-	11 unrelated patients	-	-	Portugal	-	-	-	-	-	SMA	-	SMN1	SMN1	2	11	Rosário dos Santos
00116740	-	PubMed: Tsai 2001	-	-	-	-	-	-	-	-	-	SMA	SMA 1 or 2	SMN1	SMN1	2	1	Johan den Dunnen
00116741	-	PubMed: Martin 2002	3 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 2, 3	SMN1	SMN1	2	3	Johan den Dunnen
00116744	-	PubMed: Wirth 1999	2 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 3	SMN1	SMN1	2	2	Johan den Dunnen
00116745	-	PubMed: Parsons 1998, PubMed: Parsons 1998	3 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 2, 3	SMN1	SMN1	2	3	Johan den Dunnen
00116749	-	PubMed: Tsai 2001	-	-	-	-	-	-	-	-	-	SMA	SMA 1 or 2	SMN1	SMN1	2	1	Johan den Dunnen
00116752	-	Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000	7 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 2	SMN1	SMN1	2	7	Johan den Dunnen
00116755	-	PubMed: Rochette 1997, PubMed: Wirth 2000, PubMed: Wirth 1999	8 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 2, 3	SMN1	SMN1	2	8	Johan den Dunnen
00116756	-	PubMed: Hahnen 1997, PubMed: Parsons 1998, PubMed: Wirth 1999	2 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 2, 3	SMN1	SMN1	2	2	Johan den Dunnen
00116760	-	PubMed: Wang 1998	2 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 2, 3	SMN1	SMN1	2	2	Johan den Dunnen
00116796	24498607	PubMed: Kirwin 2013	5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier relatives	F;M	yes	Saudi Arabia	-	-	-	-	-	SMA	see paper; ...	SMN1	SMN1	2	3	Johan den Dunnen
00213680	-	PubMed: Starling	1M / 4F	-	-	Brazil	-	-	-	-	-	SMA	-	CAPN3	CAPN3	2	5	Johan den Dunnen
00213875	-	PubMed: Georgieva 2005, PubMed: Todorova 2007	-	F	-	Bulgaria	-	>10y	-	-	-	SMA	SMA-3; CPK elevated (HP:0003236); still able to walk (-HP:0006957) ; still able to walk (-HP:0006957)	CAPN3	CAPN3	1	1	Johan den Dunnen
00214362	-	PubMed: Georgieva 2005, PubMed: Todorova 2007	-	F	-	Bulgaria	-	-	-	-	-	SMA	SMA-3	CAPN3	CAPN3	2	1	Johan den Dunnen
00216819	20848652_Pat8281	PubMed: Scherner 2011	-	F	-	United States	-	-	-	-	-	SMA	severe	LMNA	LMNA	1	1	Johan den Dunnen
00218992	28902413-Pat2	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	SMA	SMA	BICD2	BICD2	1	1	Johan den Dunnen
00234355	Pat1	PubMed: Prior 2009	-	F	no	United States	-	-	-	-	-	SMA	see paper; ..., normal early motor milestones, walking on toes, slow in grade school activities, often uses hand assist going up and down steps; high school slight weakness hips; disease declared itself in early 20s (falling); very slight levoscoliosis; SMA type IIIb	SMN1, SMN2	SMN1, SMN2	2	1	Johan den Dunnen
00234356	Pat2	PubMed: Prior 2009	-	F	-	United States	-	-	-	-	-	SMA	see paper; ..., early motor milestones normal (9m-crawl, 15m-stand with support, 18m-walk; 2–3 years gait unsteady, hold on to furniture while waking; 5-6y assisted ambulation; 12y-wheelchair dependent; 14y-scoliosis surgery	SMN1, SMN2	SMN1, SMN2	3	1	Johan den Dunnen
00234360	Pat3	PubMed: Prior 2009	-	M	-	United States	-	-	-	-	-	SMA	see paper; ..., SMA-IIIb	SMN1, SMN2	SMN1, SMN2	3	1	Johan den Dunnen
00240408	patient	PubMed: Kernohan 2017, PubMed: Fresard 2019	-	M	no	Canada	-	-	-	-	-	SMA	see paper; ..., sporadic and atypical form of spinal muscular atrophy	ASAH1	ASAH1	2	1	Johan den Dunnen
00275007	Patient 1 Mammo 2015	PubMed: Mammo 2015	-	M	no	Taiwan	-	00y08m	-	-	-	EVR1, SMA	diagnosed with spinal muscular atrophy with SMN1 deletion, Leukocoria HP:0000555 Anterior chamber synechiae HP:0007833 Peripheral retinal avascularization HP:0007685	-	FZD4	1	1	Dimitra Ilektra Lerou
00312215	-	PubMed: Kennerson 2010	-	-	-	-	-	-	-	-	-	SMA	-	ATP7A	ATP7A	1	1	Zeynep Tümer
00312248	-	PubMed: Kennerson 2010	-	-	-	-	-	-	-	-	-	SMA	-	ATP7A	ATP7A	1	1	Zeynep Tümer
00324338	-	-	submission from patient via MGZ - Laner	F	?	-	-	-	-	-	-	SMA	Delayed ability to walk; Global developmental delay	DYNC1H1	DYNC1H1	1	1	Andreas Laner
00404919	Fam1	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	SMN1	SMN1	1	1	Johan den Dunnen
00404920	Fam2	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	SMN1	NAIP, SMN1	3	1	Johan den Dunnen
00404921	Fam3	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	SMN1	NAIP, SMN1	3	1	Johan den Dunnen
00404922	Fam4	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	SMN1	NAIP, SMN1	3	1	Johan den Dunnen
00404923	Fam5	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	SMN1	NAIP, SMN1	3	1	Johan den Dunnen
00404924	Fam6	PubMed: Sharifi 2021	analysis 432 SMA families; 6-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives	F	yes	Iran	-	-	-	-	-	SMA	-	SIGMAR1	SIGMAR1	1	1	Johan den Dunnen
00404925	Fam7	PubMed: Sharifi 2021	analysis 432 SMA families; 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Iran	-	-	-	-	-	SMA	-	DNAJB2	DNAJB2	1	1	Johan den Dunnen
00404926	Fam8	PubMed: Sharifi 2021	analysis 432 SMA families; 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Iran	-	-	-	-	-	SMA	-	PLEKHG5	PLEKHG5	1	1	Johan den Dunnen
00404927	Fam9	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	-	TNNT1	1	1	Johan den Dunnen
00404928	Fam10	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	-	TPM3	1	1	Johan den Dunnen
00404929	Fam11	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	-	TTN	1	1	Johan den Dunnen
00404930	Fam12	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	-	SACS	1	1	Johan den Dunnen
00404931	Fam13	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	-	TPM3	1	1	Johan den Dunnen
00404932	Fam14	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	-	COL6A2	1	1	Johan den Dunnen
00404933	Fam15	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	-	PLA2G6	2	1	Johan den Dunnen
00404968	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	SMN1	1	7	Johan den Dunnen
00404969	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	SMN1	1	3	Johan den Dunnen
00404970	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1	3	7	Johan den Dunnen
00404971	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1, SMN2	3	3	Johan den Dunnen
00404972	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1, SMN2	3	4	Johan den Dunnen
00404973	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1	2	143	Johan den Dunnen
00404974	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1, SMN2	3	19	Johan den Dunnen
00404975	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1, SMN2	3	5	Johan den Dunnen
00404976	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1, SMN2	3	2	Johan den Dunnen
00404977	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1	2	30	Johan den Dunnen
00404978	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1, SMN2	3	22	Johan den Dunnen
00404979	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1, SMN2	3	4	Johan den Dunnen
00404980	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	NAIP, SMN1, SMN2	3	2	Johan den Dunnen
00404981	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	SMN1, SMN2	2	8	Johan den Dunnen
00404982	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	SMN1, SMN2	2	15	Johan den Dunnen
00404983	-	PubMed: Sharifi 2021	analysis 432 SMA families	-	-	Iran	-	-	-	-	-	SMA	-	NAIP, SMN1, SMN2	SMN1	1	10	Johan den Dunnen
00411195	Fam1PatIV2	PubMed: Bai 2022	4-generation family, 1 affected, unaffected heterozygous parents, 2 unaffected males carrying DMD variant	F;M	no	China	-	-	-	-	-	SMA	see paper; ..., spinal muscular atrophy	DMD, SMN1	CXorf59, DMD, SMN1	4	1	Johan den Dunnen
00425370	Pat355	PubMed: Shirzadeh 2018	MLPA shows total deletion of SMN1 and NAIP, 2 copies of SMN2, confirming diagnosis severe SMA, contributing to infant’s death	M	-	Iran	-	-	-	-	-	PKU, SMA	reduced phenylalanine diet; 5m-muscular dysfunction, poor feeding, weakness, respiratory distress, suspected diagnosis of spinal muscular atrophy	PAH	PAH	2	1	Johan den Dunnen
00464528	-	-	PubMed: Kato 2025	F	yes	Japan	-	-	-	-	-	SMA	see paper; ..., 12y-muscle weakness left, 30y-walk with cane; 45y-wheelchair-bound	SMN1	SMN1	1	1	Tamaki Kato

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