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coffin-siris syndrome - rare congenital disorder with low tone and mental retardation
Definition for Coffin-Siris Syndrome
http://www.orpha.net/static/GB/coffinsiris_syndrome.html
some common symptoms
absent nails
coarse facial features
face deformities
increased body hair
some related diagnoses
1 - 5 of
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diagnoses
neurofibromatosis type 1
hypothyroidism
pituitary adenoma
multiple endocrine neoplasia type 1
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do i have 'Coffin-Siris Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'coffin-siris syndrome'
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diagnostic tests
Brain MRI
Coffin-Siris Syndrome and Brain MRI
Chromosomal analysis
Coffin-Siris Syndrome and Chromosomal analysis
ECHOcardiogram
Coffin-Siris Syndrome and ECHOcardiogram
Ultrasonography kidneys ureter bladder
Coffin-Siris Syndrome and Ultrasonography kidneys ureter bladder
X-rays
Coffin-Siris Syndrome and X-rays
CT brain
Coffin-Siris Syndrome and CT brain
CT scan
Coffin-Siris Syndrome and CT scan
Developmental testing
Coffin-Siris Syndrome and Developmental testing
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therapeutic procedures for 'Coffin-Siris Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Coffin-Siris Syndrome:
therapeutic procedure search results for 'coffin-siris syndrome'
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medications search results for 'coffin-siris syndrome'
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web search results for coffin-siris syndrome
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- Coffin-Siris Syndrome
Coffin-Siris syndrome - Wikipedia, the free encyclopedia
Coffin-Siris syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search. Coffin-Siris syndrome. Classification and external resources. OMIM ...
http://en.wikipedia.org/wiki/Coffin-Siris_syndrome
en.wikipedia.org
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summary
Coffin-Lowry Syndrome -- GeneReviews -- NCBI Bookshelf
Coffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound ... Some early texts and papers confused Coffin-Siris syndrome and CLS. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cls
www.ncbi.nlm.nih.gov
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summary
Talk:Coffin-Siris syndrome - Wikipedia, the free encyclopedia
Talk:Coffin-Siris syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... "http://en.wikipedia.org/wiki/Talk:Coffin-Siris_syndrome" ...
http://en.wikipedia.org/wiki/Talk:Coffin-Siris_syndrome
en.wikipedia.org
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summary
Coffin-Lowry Syndrome
Coffin-Lowry syndrome (CLS) is characterized by severe to. profound mental retardation ... Some early texts and papers confused Coffin-Siris syndrome and CLS. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Coffin Lowry Syndrome. Coffin Siris Syndrome ...
http://www.webmd.com/a-to-z-guides/health-topics/ck-co.htm
www.webmd.com
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summary
Phenotypic and cytogenetic spectrum of 9p trisomy.
... cases 3 and 4 had additional features overlapping with Coffin-Siris syndrome. ... strengthens the association of Coffin-Siris syndrome and 9p, the significance ...
http://www.ncbi.nlm.nih.gov/pubmed/17515299
www.ncbi.nlm.nih.gov
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summary
Encyclopedia C-Cz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Syndrome. Coffin Siris Syndrome. Coffin ...
http://health.yahoo.com/ency/c/
health.yahoo.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ...
skull syndrome 10 0.02% colangiocarcinoma 10 0.02% cromosoma 17 10 0.02 ... aorte 3 0.01% coenzima q 3 0.01% coffin siris 3 0.01% coffin-siris syndrome ...
http://www.orpha.net/stat/orphanet/search_200610.html
www.orpha.net
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summary
OMIM Update List for April, 2006
300590 CORNELIA DE LANGE SYNDROME, X-LINKED ... 135900 COFFIN-SIRIS SYNDROME. 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2006
www.ncbi.nlm.nih.gov
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summary
Coffin-Lowry syndrome - Wikipedia, the free encyclopedia
... of boys with Coffin-Lowry syndrome have no history of ... G. S. Coffin, E. Siris, L. C. Wegienka. Mental retardation with osteocartilaginous anomalies. ...
http://en.wikipedia.org/wiki/Coffin-Lowry_syndrome
en.wikipedia.org
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summary
OMIM Update List for April, 2008
608454 KNOBLOCH SYNDROME, TYPE II ... 135900 COFFIN-SIRIS SYNDROME. 150210 LACTOTRANSFERRIN; LTF ... 109650 BEHCET SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2008
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2008 ...
... crianças portadoras da sindrome de coffin-siris 3 0.01% fotos de fissura calcà ... coffin-lowry syndrome-behavioral issues 2 0.00% coffin-siris syndrome 2 0.00 ...
http://www.orpha.net/stat/orphanet/search_200803.html
www.orpha.net
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summary
OMIM Update List for August, 2006
135900 COFFIN-SIRIS SYNDROME. 136470 FOLLISTATIN; FST. 158340 MUCIN 1, TRANSMEMBRANE; MUC1 ... 303600 COFFIN-LOWRY SYNDROME; CLS. 603457 ARHINIA, CHOANAL ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.2006
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for September, 2008
... CYSTS AND DIABETES SYNDROME ... 255980 NASODIGITOACOUSTIC SYNDROME ... 135900 COFFIN-SIRIS SYNDROME. 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.2008
www.ncbi.nlm.nih.gov
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summary
ORPHANET® : Base de données sur les maladies rares et les médicaments ...
The Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental ... Coffin GS, Siris E, Wegienka LC : Mental retardation with osteocartilaginous anomalies. ...
http://www.orpha.net/data/patho/GB/uk-coffin.html
www.orpha.net
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summary
Congenital Diaphragmatic Hernia Overview -- GeneReviews -- NCBI Bookshelf
Denys-Drash syndrome. This syndrome is a characteristic malformation complex consisting of genital ... Coffin-Siris syndrome ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cdh-ov
www.ncbi.nlm.nih.gov
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summary
Nail-Patella Syndrome -- GeneReviews -- NCBI Bookshelf
Nail-patella syndrome (NPS) involves a classic clinical tetrad of ... Coffin-Siris syndrome. Absence or hypoplasia of the nails and patellae. Elbow dislocation ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=nail-ps
www.ncbi.nlm.nih.gov
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summary
Nail-Patella Syndrome
Nail-patella syndrome (NPS) involves a classic clinical tetrad of ... Coffin-Siris syndrome. Absence or hypoplasia. of the nails and patellae. Elbow dislocation ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Orphanet: Liste d'articles pour les professionnels
Le portail des maladies rares et des médicaments orphelins ... Coffin-Siris, syndrome de. Article de revue pour professionnels. Français (pdf,59ko) ...
http://www.orpha.net/consor/cgi-bin/Disease_ProEncyclo_List.php?lng=FR&TAG=C
www.orpha.net
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summary
OMIM Update List for May, 2006
603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A ... 135900 COFFIN-SIRIS SYNDROME. 143100 HUNTINGTON DISEASE; HD ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2006
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ...
q10 3 0.01% coffin siris 3 0.01% colangiocarcinoma klatskin 3 0.01% colite ... 2 0.01% coffin 2 0.01% coffin siris syndrome 2 0.01% cofs syndrome 2 0.01% cogan ...
http://orphanet.orpha.net/stat/orphanet/search_200607.html
orphanet.orpha.net
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summary
Dandy-Walker syndrome - NextBio
... chromosomal abnormalities Coffin-Siris syndrome Congenital Malformations corpus ... Late diagnosis of Dandy-Walker syndrome revealed by gait disorders in ...
http://www.nextbio.com/b/home/home.nb?q=Dandy-Walker+syndrome&tab=lit
www.nextbio.com
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summary
Coffin-Siris syndrome
http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Coffi...
www.nlm.nih.gov
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summary
OMIM Update List for May, 2007
Clinical Synopsis for 135900 COFFIN-SIRIS SYNDROME ... 303600 COFFIN-LOWRY SYNDROME; CLS. 311750 MOVED TO 170650. 535000 LEBER OPTIC ATROPHY ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2007
www.ncbi.nlm.nih.gov
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summary
Orphanet: Coffin Siris, syndrome de
Coffin-Siris, syndrome de. Numéro Orphanet. ORPHA1465. Prévalence des maladies rares ... Le syndrome de Coffin-Siris se caractérise par l'association entre l'absence ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1465
www.orpha.net
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summary
Orphanet: Brachymorphisme onychodysplasie dysphalangisme
Le portail des maladies rares et des médicaments orphelins ... évoque une forme mineure de syndrome de Coffin Siris (voir ce terme), mais la ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=1292
www.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2007 ...
... 18 0.02% cloverleaf syndrome 18 0.02% coffin siris 18 0.02% colitis 18 ... sindrome de coffin siris 10 0.01% sindrome de gilbert 10 0.01% sindrome ...
http://orphanet.orpha.net/stat/orphanet/search_200704.html
orphanet.orpha.net
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summary
Distal epiphysis of phalanx of second toe(Head of phalanx of second toe ...
You must enable JavaScript to run the NextBio application ... Apert syndrome big toe CHRM1 claw toe Coffin-Siris syndrome fallopian tube ...
http://www.nextbio.com/b/home/home.nb?q=Head+of+phalanx+of+s...
www.nextbio.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2008 ...
Hits Référent -4616997 32.64% - (Direct Request) 3455157 24.43% http://www.orpha. ... www.medigle.de/rw/diagnoses/18p+deletion+syndrome 114 0.00% http://www.orpha.net ...
http://www.orpha.net/stat/orphanet/ref_200806.html
www.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ...
... coagulopatias 5 0.01% coffin siris syndrome 5 0.01% cofs syndrome 5 0.01% colite ... cat eye 4 0.01% sindrome coffin siris en mexico 4 0.01% sindrome cornelia ...
http://orphanet.orpha.net/stat/orphanet/search_200710.html
orphanet.orpha.net
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summary
I Justus - NextBio
... clinodactyly coeliac disease Coffin-Siris syndrome cytosol DST eczema ... the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? ...
http://www.nextbio.com/b/literature/literature.nb?author=I+Justus
www.nextbio.com
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summary
Wolf-Hirschhorn Syndrome -- GeneReviews -- NCBI Bookshelf
Wolf-Hirschhorn syndrome (WHS) is characterized by typical craniofacial features ... Wilson MG, Towner JW, Coffin GS, Ebbin AJ, Siris E, Brager P. Genetic and ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2006 ...
... 78 0.18% drépanocytose 78 0.18% tay-sachs 77 0.18% sapho syndrome ... salvas 7 0.02% cistinúria 7 0.02% coffin siris 7 0.02% colera 7 0.02% coloboma ...
http://www.orpha.net/stat/orphanet/search_200604.html
www.orpha.net
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summary
Category:Syndromes - Wikipedia, the free encyclopedia
Ablepharon macrostomia syndrome. Achard-Thiers syndrome ... Coffin-Siris syndrome. Cogan syndrome. Compartment syndrome. Complex regional pain syndrome ...
http://en.wikipedia.org/wiki/Category:Syndromes
en.wikipedia.org
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summary
R Rosskamp - NextBio
... calcitriol calcium Coffin-Siris syndrome corticotropin-releasing ... This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900) ...
http://www.nextbio.com/b/literature/literature.nb?author=R+Rosskamp
www.nextbio.com
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summary
Coffin Siris Syndrome - Yahoo! Health
Important It is possible that the main title of the report Coffin Siris Syndrome is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/children-genetic/coffin-siris-syndro...
health.yahoo.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mai 2006 ...
... 4 0.01% clover leaf syndrome 4 0.01% coffin siris 4 0.01% colestase 4 0.01 ... 0.01% sindrome de coffin siris 4 0.01% sindrome de cogan 4 0.01% sindrome de ...
http://www.orpha.net/stat/orphanet/search_200605.html
www.orpha.net
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summary
Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome (WHS) is characterized by typical ... Wilson MG, Towner JW, Coffin GS, Ebbin AJ, Siris E, Brager P. Genetic and ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
SA Temtamy - NextBio
... chromosome disorders Coffin-Siris syndrome COL11A2 connective tissue contracture ... dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome. ...
http://www.nextbio.com/b/literature/literature.nb?author=SA+Temtamy
www.nextbio.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ...
... skull syndrome 3 0.01% coffin lowry 3 0.01% coffin-lowry 3 0.01% coffin-siris 3 0.01% cofs syndrome 3 0.01% colchicine 3 0.01% colite ...
http://www.orpha.net/stat/orphanet/search_200609.html
www.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Fevrier ...
... sindrome de coffin siris 6 0.01% sindrome de gitelman 6 0.01% sindrome de li ... coats 4 0.01% coffin siris syndrome 4 0.01% coffin-siris 4 0.01% collagenous ...
http://www.orpha.net/stat/orphanet/search_200702.html
www.orpha.net
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summary
List of diseases (C) - Wikipedia, the free encyclopedia
Capillary leak syndrome with monoclonal gammopathy ... Coffin-Lowry syndrome. Coffin-Siris syndrome. COFS syndrome [edit] Cog-Coh. Cogan-Reese syndrome ...
http://en.wikipedia.org/wiki/List_of_diseases_(C)
en.wikipedia.org
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U Surti - NextBio
Angelman syndrome bone marrow CDKN1C chromosomal abnormalities cleft lip cleft palate Coffin-Siris syndrome complete hydatidiform moles developmental ...
http://www.nextbio.com/b/literature/literature.nb?author=U+Surti
www.nextbio.com
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ...
... syndrome 107 0.08% coloboma 107 0.08% kawasaki 107 0.08% osteogênese imperfeita ... sindrome de coffin lowry 8 0.01% sindrome de cornélia de lange 8 0.01 ...
http://www.orpha.net/stat/orphanet/search_200709.html
www.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mai 2008 ...
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net. Période ... Généré le 01-Jun-2008 22:39 CEST. Hits Référent -5086188 34.35% - (Direct Request) ...
http://www.orpha.net/stat/orphanet/ref_200805.html
www.orpha.net
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2006 ...
danlos 13 0.03% syndrome de gougerot sjogren 13 0.03% xantinuria 12 0.03 ... 3 0.01% coartação 3 0.01% coffin siris 3 0.01% colangiocarcinoma 3 0.01 ...
http://www.orpha.net/stat/orphanet/search_200606.html
www.orpha.net
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summary
Coffin-Siris-Wegienka syndrome
http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Coffi...
www.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2006 ...
... 3 0.01% coffin 3 0.01% coffin lowry 3 0.01% cokayne syndrome 3 0.01% colageno ... de bruck 3 0.01% sindrome de coffin siris 3 0.01% sindrome de crigler najjar i ...
http://www.orpha.net/stat/orphanet/search_200608.html
www.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ...
... 72 0.16% sapho 71 0.16% apaiser 69 0.15% capillary leak syndrome 68 ... coffin lowry 4 0.01% coffin-lowry sindrome 4 0.01% coffin-lowry syndrome more: ...
http://www.orpha.net/stat/orphanet/search_200612.html
www.orpha.net
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Janvier ...
... sindrome beals 5 0.01% sindrome coffin siris 5 0.01% sindrome dandy walker 5 ... lowry syndrome more:tests_diagnosis 3 0.01% coffin-siris 3 0.01% cofs 3 0.01 ...
http://www.orpha.net/stat/orphanet/search_200701.html
www.orpha.net
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