Disease #00500 (SMA2 (atrophy, muscular, spinal, type II (SMA-2, infantile, chronic)), OMIM:253550)

Official abbreviation	SMA2
Name	atrophy, muscular, spinal, type II (SMA-2, infantile, chronic)
OMIM ID	253550
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	21
Phenotype entries for this disease	19
Associated with 1 gene	SMN1
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
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
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Armenia
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Australia
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Austria
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Bahrain
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Belarus
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Belgium
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Benin
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Bermuda
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Bhutan
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Bolivia
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Bosnia and Herzegovina
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Botswana
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Bouvet Island
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Brazil
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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
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Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
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Czech Republic
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Denmark
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
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England
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Equatorial Guinea
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Estonia
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Ethiopia
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
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Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
(Indonesia)
Iran
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Iraq
(Iraq)
Ireland
(Ireland)
Israel
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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
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Lebanon
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Lesotho
(Lesotho)
Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Mallorca
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Malta
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Marshall Islands
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Martinique
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Mauritania
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nauru
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Nepal
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Netherlands
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
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New Zealand
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Norway
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Oman
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Pakistan
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Palestine
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Panama
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Paraguay
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Peru
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Philippines
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Pitcairn
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Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
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Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
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San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
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Scotland
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Senegal
(Senegal)
Serbia
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Seychelles
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Sierra Leone
(Sierra Leone)
Singapore
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Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
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Solomon Islands
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Somalia
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South Africa
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Southern Territories, French
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Soviet Union (former)
(Soviet Union (former))
Spain
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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
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
(Tokelau)
Tonga
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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
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Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
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Viet Nam
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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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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
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Example	Matches
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21 entries on 1 page. Showing entries 1 - 21.

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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
00116707	-	PubMed: Parsons 1998	-	-	-	United States	-	-	-	-	-	SMA2	-	SMN1	SMN1	3	1	Johan den Dunnen
00116714	-	PubMed: Hahnen 1997	-	-	-	Germany	-	-	-	-	-	SMA2	-	SMN1	SMN1	2	1	Johan den Dunnen
00116720	-	PubMed: Sossi 2001	-	M	-	Italy	-	-	-	-	-	SMA2	WB smaller SMN1	SMN1	SMN1	2	1	Johan den Dunnen
00116723	-	PubMed: Bussaglia 1995, PubMed: Cusco 2003	3 patients (1 early onset)	-	-	Spain	-	-	-	-	-	SMA2	-	SMN1	SMN1	2	3	Johan den Dunnen
00116726	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA2	-	SMN1	SMN1	2	1	Johan den Dunnen
00116746	-	PubMed: Wirth 1999	-	-	-	-	-	-	-	-	-	SMA2	-	SMN1	SMN1	2	1	Johan den Dunnen
00116754	-	PubMed: Skordis 2001	2 unrelated cases	-	-	-	-	-	-	-	-	SMA2	-	SMN1	SMN1	2	2	Johan den Dunnen
00116765	-	PubMed: Bai 2014	-	F	-	China	-	-	-	-	-	SMA2	EMG nerve damage	SMN1	SMN1	2	1	Johan den Dunnen
00116767	-	PubMed: Bai 2014	-	F	-	China	-	-	-	-	-	SMA2	EMG nerve damage	SMN1	SMN1	2	1	Johan den Dunnen
00116769	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA2	EMG nerve damage	SMN1	SMN1	2	1	Johan den Dunnen
00116770	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA2	EMG nerve damage	SMN1	SMN1	2	1	Johan den Dunnen
00116776	-	PubMed: Yamamoto 2013	-	F	-	Japan	-	>7y	-	-	-	SMA2	first diagnosed as SMA type 2/3, sit unaided and stand while holding onto something, at 2y rapidly lost these abilities; 3y-bound to artificial ventilator (respiratory insufficiency)	SMN1	SMN1	2	1	Hisahide Nishio
00116780	-	-	-	M	-	China	chinese	-	-	-	-	SMA2	-	SMN1	SMN1	1	1	Fang Song
00116789	-	-	-	F	-	(China)	-	-	-	-	-	SMA2	-	SMN1	SMN1	1	1	Fang Song
00116792	-	PubMed: Wirth 2000	-	-	-	-	-	-	-	-	-	SMA2	-	SMN1	SMN1	1	1	Johan den Dunnen
00116793	-	PubMed: Lefebvre 1995	-	-	-	-	-	-	-	-	-	SMA2	-	SMN1	SMN1	1	1	Johan den Dunnen
00116794	-	PubMed: Gambardella 1998	del NAIP exon 5	M	-	Italy	-	-	-	-	-	SMA2	-	SMN1	SMN1	2	1	Johan den Dunnen
00150115	-	-	-	M	no	Spain	white	-	-	-	-	SMA2	-	SMN1	SMN1	1	1	Laura Alías
00168071	-	-	-	F	-	Greece	-	-	-	-	-	SMA2	5.5y-respiratory support and gastrostomy	SMN1	SMN1	1	1	Kyriaki Kekou
00168072	-	-	-	M	no	Greece	-	-	-	-	-	SMA2	-	SMN1	SMN1	1	2	Kyriaki Kekou
00234342	-	-	-	-	-	-	-	-	-	-	-	SMA2	-	SMN1, SMN2	SMN1, SMN2	3	1	Gemeinschaftspraxis für Humangenetik Dresden

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