|
10q22.3q23.3 microduplication syndrome
|
(Orphanet:276422)
|
|
15q11q13 microduplication syndrome
|
(Orphanet:238446)
|
|
15q13.3 microdeletion syndrome
|
(Orphanet:199318)
|
|
15q13.3 microdeletion syndrome
|
(Orphanet:199318)
|
|
15q24 microdeletion syndrome
|
(Orphanet:94065)
|
|
16p13.3 microduplication syndrome
|
(Orphanet:96078)
|
|
17p11.2 microduplication syndrome
|
(Orphanet:1713)
|
|
17q11 microdeletion syndrome
|
(Orphanet:97685)
|
|
17q11.2 microduplication syndrome
|
(Orphanet:139474)
|
|
17q11.2 microduplication syndrome
|
(Orphanet:139474)
|
|
19q13.11 microdeletion syndrome
|
(Orphanet:217346)
|
|
1p36 deletion syndrome
|
(Orphanet:1606)
|
|
1p36 deletion syndrome
|
(Orphanet:1606)
|
|
22q11.2 deletion syndrome
|
(Orphanet:567)
|
|
22q11.2 microduplication syndrome
|
(Orphanet:1727)
|
|
2q37 microdeletion syndrome
|
(Orphanet:1001)
|
|
3C syndrome
|
(Orphanet:7)
|
|
48,XXXY syndrome
|
(Orphanet:96263)
|
|
48,XXYY syndrome
|
(Orphanet:10)
|
|
49,XXXXY syndrome
|
(Orphanet:96264)
|
|
6q16 deletion syndrome
|
(Orphanet:171829)
|
|
6q25 microdeletion syndrome
|
(Orphanet:251056)
|
|
8p23.1 microdeletion syndrome
|
(Orphanet:251071)
|
|
8p23.1 microduplication syndrome
|
(Orphanet:251076)
|
|
ADAMS-OLIVER SYNDROME 1
|
(OMIM:100300)
|
|
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3
|
(OMIM:170995)
|
|
AUROCEPHALOSYNDACTYLY
|
(OMIM:109050)
|
|
AUROCEPHALOSYNDACTYLY
|
(OMIM:109050)
|
|
AXENFELD-RIEGER SYNDROME, TYPE 2
|
(OMIM:601499)
|
|
AXENFELD-RIEGER SYNDROME, TYPE 2
|
(OMIM:601499)
|
|
Aarskog-Scott syndrome
|
(Orphanet:915)
|
|
Absent tibia - polydactyly
|
(Orphanet:988)
|
|
Absent tibia - polydactyly
|
(Orphanet:988)
|
|
Acalvaria
|
(Orphanet:945)
|
|
Achondrogenesis
|
(Orphanet:932)
|
|
Achondrogenesis type 1A
|
(Orphanet:93299)
|
|
Achondrogenesis type 1B
|
(Orphanet:93298)
|
|
Achondrogenesis type 2
|
(Orphanet:93296)
|
|
Acro-cardio-facial syndrome
|
(Orphanet:2008)
|
|
Acrocallosal syndrome
|
(Orphanet:36)
|
|
Acrocraniofacial dysostosis
|
(Orphanet:949)
|
|
Acrofacial dysostosis, Rodriguez type
|
(Orphanet:1788)
|
|
Acroosteolysis, dominant type
|
(Orphanet:955)
|
|
Angio-osteohypertrophic syndrome
|
(Orphanet:2346)
|
|
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
|
(Orphanet:1101)
|
|
Antley-Bixler syndrome
|
(Orphanet:83)
|
|
Aorta coarctation
|
(Orphanet:1457)
|
|
Apert syndrome
|
(Orphanet:87)
|
|
Ataxia - photosensitivity - short stature
|
(Orphanet:1184)
|
|
Autosomal dominant Opitz G/BBB syndrome
|
(Orphanet:306588)
|
|
Autosomal dominant Robinow syndrome
|
(Orphanet:3107)
|
|
Autosomal dominant spondylocostal dysostosis
|
(Orphanet:1797)
|
|
Autosomal recessive deafness-onychodystrophy syndrome
|
(Orphanet:79500)
|
|
Autosomal recessive deafness-onychodystrophy syndrome
|
(Orphanet:79500)
|
|
Autosomal recessive multiple pterygium syndrome
|
(Orphanet:2990)
|
|
Autosomal recessive omodysplasia
|
(Orphanet:93329)
|
|
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
(Orphanet:331176)
|
|
Autosomal recessive spondylocostal dysostosis
|
(Orphanet:2311)
|
|
Axenfeld-Rieger syndrome
|
(Orphanet:782)
|
|
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
|
(OMIM:211200)
|
|
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
|
(OMIM:211200)
|
|
Baller-Gerold syndrome
|
(Orphanet:1225)
|
|
Baller-Gerold syndrome
|
(Orphanet:1225)
|
|
Bardet-Biedl syndrome
|
(Orphanet:110)
|
|
Bartsocas-Papas syndrome
|
(Orphanet:1234)
|
|
Beckwith-Wiedemann syndrome
|
(Orphanet:116)
|
|
Beemer-Ertbruggen syndrome
|
(Orphanet:1237)
|
|
Beemer-Ertbruggen syndrome
|
(Orphanet:1237)
|
|
Bilateral renal agenesis
|
(Orphanet:1848)
|
|
Bohring-Opitz syndrome
|
(Orphanet:97297)
|
|
Bone dysplasia, lethal Holmgren type
|
(Orphanet:1842)
|
|
Bowen-Conradi syndrome
|
(Orphanet:1270)
|
|
C syndrome
|
(Orphanet:1308)
|
|
CAMPOMELIC DYSPLASIA
|
(OMIM:114290)
|
|
CHARGE syndrome
|
(Orphanet:138)
|
|
CHILD syndrome
|
(Orphanet:139)
|
|
CHILD syndrome
|
(Orphanet:139)
|
|
CHROMOSOME 15q11.2 DELETION SYNDROME
|
(OMIM:615656)
|
|
CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED
|
(OMIM:136570)
|
|
CLOVE syndrome
|
(Orphanet:140944)
|
|
CORNELIA DE LANGE SYNDROME 1
|
(OMIM:122470)
|
|
Campomelia, Cumming type
|
(Orphanet:1318)
|
|
Campomelic dysplasia
|
(Orphanet:140)
|
|
Campomelic dysplasia
|
(Orphanet:140)
|
|
Cantrell pentalogy
|
(Orphanet:1335)
|
|
Cardiocranial syndrome, Pfeiffer type
|
(Orphanet:2872)
|
|
Cardiocranial syndrome, Pfeiffer type
|
(Orphanet:2872)
|
|
Cardiofaciocutaneous syndrome
|
(Orphanet:1340)
|
|
Cat-eye syndrome
|
(Orphanet:195)
|
|
Cat-eye syndrome
|
(Orphanet:195)
|
|
Catel-Manzke syndrome
|
(Orphanet:1388)
|
|
Caudal regression sequence
|
(Orphanet:3027)
|
|
Cleft lip/palate - intestinal malrotation - cardiopathy
|
(Orphanet:2001)
|
|
Cleft lip/palate - intestinal malrotation - cardiopathy
|
(Orphanet:2001)
|
|
Coffin-Siris syndrome
|
(Orphanet:1465)
|
|
Congenital contractural arachnodactyly
|
(Orphanet:115)
|
|
Congenital pulmonary valve stenosis
|
(Orphanet:3189)
|
|
Congenital pulmonary veins atresia or stenosis
|
(Orphanet:3188)
|
|
Congenital pulmonary venous return anomaly
|
(Orphanet:3090)
|
|
Congenital unilateral hypoplasia of depressor anguli oris
|
(Orphanet:1166)
|
|
Congenital valvular dysplasia
|
(Orphanet:1864)
|
|
Cornelia de Lange syndrome
|
(Orphanet:199)
|
|
Costello syndrome
|
(Orphanet:3071)
|
|
Craniomicromelic syndrome
|
(Orphanet:1524)
|
|
Criss-cross heart
|
(Orphanet:1461)
|
|
Cutis laxa-Marfanoid syndrome
|
(Orphanet:171719)
|
|
Cutis laxa-Marfanoid syndrome
|
(Orphanet:171719)
|
|
DIGEORGE SYNDROME
|
(OMIM:188400)
|
|
DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERALVASCULATURE
|
(OMIM:126320)
|
|
Diabetic embryopathy
|
(Orphanet:1926)
|
|
Diabetic embryopathy
|
(Orphanet:1926)
|
|
Diffuse neonatal hemangiomatosis
|
(Orphanet:2123)
|
|
Dislocation of the hip - dysmorphism
|
(Orphanet:2412)
|
|
Distal monosomy 10p
|
(Orphanet:1580)
|
|
Distal monosomy 3p
|
(Orphanet:1620)
|
|
Distal monosomy 9p
|
(Orphanet:1642)
|
|
Distal trisomy 15q
|
(Orphanet:1707)
|
|
Distal trisomy 18q
|
(Orphanet:1716)
|
|
Distal trisomy 6p
|
(Orphanet:1745)
|
|
Down syndrome
|
(Orphanet:870)
|
|
Duane retraction syndrome
|
(Orphanet:233)
|
|
Dubowitz syndrome
|
(Orphanet:235)
|
|
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
|
(OMIM:601348)
|
|
Ebstein malformation
|
(Orphanet:1880)
|
|
Ectrodactyly - spina bifida - cardiopathy
|
(Orphanet:1894)
|
|
Ehlers-Danlos syndrome, vascular type
|
(Orphanet:286)
|
|
Ellis Van Creveld syndrome
|
(Orphanet:289)
|
|
Embryofetopathy due to oral anticoagulant therapy
|
(Orphanet:1914)
|
|
Endomyocardial fibroelastosis
|
(Orphanet:2022)
|
|
Erythrokeratodermia variabilis
|
(Orphanet:317)
|
|
Eye defects - arachnodactyly - cardiopathy
|
(Orphanet:2725)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A
|
(OMIM:227650)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A
|
(OMIM:227650)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
(OMIM:227645)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
(OMIM:227646)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
(OMIM:227646)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP E
|
(OMIM:600901)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP E
|
(OMIM:600901)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
(OMIM:609053)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
(OMIM:613390)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
(OMIM:613390)
|
|
Facioscapulohumeral dystrophy
|
(Orphanet:269)
|
|
Fallot complex - intellectual deficit - growth delay
|
(Orphanet:3304)
|
|
Familial caudal dysgenesis
|
(Orphanet:1768)
|
|
Familial visceral myopathy
|
(Orphanet:2604)
|
|
Fanconi anemia
|
(Orphanet:84)
|
|
Femoral-facial syndrome
|
(Orphanet:1988)
|
|
Fetal left ventricular aneurysm
|
(Orphanet:1055)
|
|
Fibulo-ulnar hypoplasia - renal anomalies
|
(Orphanet:2256)
|
|
Floating-Harbor syndrome
|
(Orphanet:2044)
|
|
Frank-Ter Haar syndrome
|
(Orphanet:137834)
|
|
Frank-Ter Haar syndrome
|
(Orphanet:137834)
|
|
Fraser syndrome
|
(Orphanet:2052)
|
|
Frontonasal dysplasia
|
(Orphanet:250)
|
|
GOMBO SYNDROME
|
(OMIM:233270)
|
|
GOMBO SYNDROME
|
(OMIM:233270)
|
|
Genito-palato-cardiac syndrome
|
(Orphanet:2075)
|
|
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
|
(Orphanet:2084)
|
|
Gonadal dysgenesis, XY type - associated anomalies
|
(Orphanet:1770)
|
|
Gonadal dysgenesis, XY type - associated anomalies
|
(Orphanet:1770)
|
|
HAJDU-CHENEY SYNDROME
|
(OMIM:102500)
|
|
HELSMOORTEL-VAN DER AA SYNDROME
|
(OMIM:615873)
|
|
HETEROTAXY, VISCERAL, 5, AUTOSOMAL
|
(OMIM:270100)
|
|
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA
|
(OMIM:147950)
|
|
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED
|
(OMIM:241800)
|
|
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED
|
(OMIM:241800)
|
|
Hallermann-Streiff syndrome
|
(Orphanet:2108)
|
|
Heart defect - round face - congenital developmental delay
|
(Orphanet:1355)
|
|
Heart defect - tongue hamartoma - polysyndactyly
|
(Orphanet:1338)
|
|
Heart defects - limb shortening
|
(Orphanet:1354)
|
|
Heart defects - limb shortening
|
(Orphanet:1354)
|
|
Heart-hand syndrome type 2
|
(Orphanet:1350)
|
|
Hemihypertrophy
|
(Orphanet:2128)
|
|
Holoprosencephaly - postaxial polydactyly
|
(Orphanet:2166)
|
|
Holoprosencephaly - radial heart renal anomalies
|
(Orphanet:3186)
|
|
Holoprosencephaly - radial heart renal anomalies
|
(Orphanet:3186)
|
|
Holt-Oram syndrome
|
(Orphanet:392)
|
|
Holzgreve-Wagner-Rehder syndrome
|
(Orphanet:2167)
|
|
Hydrolethalus
|
(Orphanet:2189)
|
|
Hypertelorism-microtia-facial clefting syndrome
|
(Orphanet:2213)
|
|
Hypertelorism-microtia-facial clefting syndrome
|
(Orphanet:2213)
|
|
Incessant infant ventricular tachycardia
|
(Orphanet:45453)
|
|
Iniencephaly
|
(Orphanet:63259)
|
|
Intellectual deficit - hypoplastic corpus callosum - preauricular tag
|
(Orphanet:1495)
|
|
Intellectual deficit - myopathy - short stature - endocrine defect
|
(Orphanet:3068)
|
|
Intellectual deficit - sparse hair - brachydactyly
|
(Orphanet:3051)
|
|
Isolated Klippel-Feil syndrome
|
(Orphanet:2345)
|
|
Isolated Klippel-Feil syndrome
|
(Orphanet:2345)
|
|
Isolated spina bifida
|
(Orphanet:823)
|
|
Johanson-Blizzard syndrome
|
(Orphanet:2315)
|
|
Joubert syndrome
|
(Orphanet:475)
|
|
Joubert syndrome with ocular defect
|
(Orphanet:220493)
|
|
Joubert syndrome with oculorenal defect
|
(Orphanet:2318)
|
|
Joubert syndrome with orofaciodigital defect
|
(Orphanet:2754)
|
|
Joubert syndrome with renal defect
|
(Orphanet:220497)
|
|
KABUKI SYNDROME 1
|
(OMIM:147920)
|
|
KABUKI SYNDROME 2
|
(OMIM:300867)
|
|
Kallmann syndrome
|
(Orphanet:478)
|
|
Kallmann syndrome
|
(Orphanet:478)
|
|
Kallmann syndrome - heart disease
|
(Orphanet:2326)
|
|
Keipert syndrome
|
(Orphanet:2662)
|
|
Kousseff syndrome
|
(Orphanet:2351)
|
|
Langer-Giedion syndrome
|
(Orphanet:502)
|
|
Larynx atresia
|
(Orphanet:1202)
|
|
Laurence-Moon syndrome
|
(Orphanet:2377)
|
|
Lethal chondrodysplasia, Moerman type
|
(Orphanet:1420)
|
|
Lethal faciocardiomelic dysplasia
|
(Orphanet:1972)
|
|
Lethal multiple pterygium syndrome
|
(Orphanet:33108)
|
|
Lethal recessive chondrodysplasia
|
(Orphanet:1423)
|
|
Lower limb deficiency - hypospadias
|
(Orphanet:2487)
|
|
Lowry-MacLean syndrome
|
(Orphanet:2409)
|
|
Lowry-MacLean syndrome
|
(Orphanet:2409)
|
|
Lung agenesis - heart defect - thumb anomalies
|
(Orphanet:1120)
|
|
Lymphedema - distichiasis
|
(Orphanet:33001)
|
|
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION
|
(OMIM:249670)
|
|
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
|
(OMIM:614114)
|
|
Marden-Walker syndrome
|
(Orphanet:2461)
|
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
|
Maternal hyperphenylalaninemia
|
(Orphanet:2209)
|
|
Matthew-Wood syndrome
|
(Orphanet:2470)
|
|
McDonough syndrome
|
(Orphanet:2471)
|
|
McKusick-Kaufman syndrome
|
(Orphanet:2473)
|
|
McKusick-Kaufman syndrome
|
(Orphanet:2473)
|
|
Meckel syndrome
|
(Orphanet:564)
|
|
Megacystis-microcolon-intestinal hypoperistalsis syndrome
|
(Orphanet:2241)
|
|
Megalencephaly-capillary malformation-polymicrogyria syndrome
|
(Orphanet:60040)
|
|
Mesomelia-synostoses syndrome
|
(Orphanet:2496)
|
|
Methylmalonic acidemia with homocystinuria
|
(Orphanet:26)
|
|
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type
|
(Orphanet:217026)
|
|
Microgastria - limb reduction defect
|
(Orphanet:2538)
|
|
Microphthalmia, Lenz type
|
(Orphanet:568)
|
|
Miller-Dieker syndrome
|
(Orphanet:531)
|
|
Miller-Dieker syndrome
|
(Orphanet:531)
|
|
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
|
(Orphanet:1194)
|
|
Monosomy 13q14
|
(Orphanet:1587)
|
|
Monosomy 18p
|
(Orphanet:1598)
|
|
Monosomy 5p
|
(Orphanet:281)
|
|
Monosomy 5p
|
(Orphanet:281)
|
|
Monosomy 9p
|
(Orphanet:261112)
|
|
Mosaic trisomy 14
|
(Orphanet:1703)
|
|
Mosaic trisomy 8
|
(Orphanet:96061)
|
|
Mosaic variegated aneuploidy syndrome
|
(Orphanet:1052)
|
|
Mowat-Wilson syndrome
|
(Orphanet:2152)
|
|
Mowat-Wilson syndrome due to a point mutation
|
(Orphanet:261552)
|
|
Mucolipidosis type 3
|
(Orphanet:577)
|
|
Mucopolysaccharidosis type 6
|
(Orphanet:583)
|
|
Mullerian derivatives - lymphangiectasia - polydactyly
|
(Orphanet:1655)
|
|
Multifocal atrial tachycardia
|
(Orphanet:3282)
|
|
Multiple benign circumferential skin creases on limbs
|
(Orphanet:2505)
|
|
Multiple benign circumferential skin creases on limbs
|
(Orphanet:2505)
|
|
Multiple non-ossifying fibromatosis
|
(Orphanet:2029)
|
|
Myhre syndrome
|
(Orphanet:2588)
|
|
NOONAN SYNDROME 1
|
(OMIM:163950)
|
|
NOONAN SYNDROME 4
|
(OMIM:610733)
|
|
Nager syndrome
|
(Orphanet:245)
|
|
Neu-Laxova syndrome
|
(Orphanet:2671)
|
|
Neuroectodermal syndrome, Johnson type
|
(Orphanet:2316)
|
|
Neurofaciodigitorenal syndrome
|
(Orphanet:2673)
|
|
Neurogenic arthrogryposis multiplex congenita
|
(Orphanet:1143)
|
|
Neurogenic arthrogryposis multiplex congenita
|
(Orphanet:1143)
|
|
Non-distal trisomy 10q
|
(Orphanet:1695)
|
|
Non-rhizomelic chondrodysplasia punctata
|
(Orphanet:176)
|
|
Noonan syndrome
|
(Orphanet:648)
|
|
Noonan syndrome with multiple lentigines
|
(Orphanet:500)
|
|
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
|
(Orphanet:363972)
|
|
Noonan syndrome-like disorder with loose anagen hair
|
(Orphanet:2701)
|
|
OSTEOGENESIS IMPERFECTA, TYPE XII
|
(OMIM:613849)
|
|
Oculoauriculovertebral spectrum with radial defects
|
(Orphanet:2549)
|
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
|
Odontomatosis - aortae esophagus stenosis
|
(Orphanet:2724)
|
|
Orofaciodigital syndrome type 2
|
(Orphanet:2751)
|
|
Orofaciodigital syndrome type 4
|
(Orphanet:2753)
|
|
Osteogenesis imperfecta
|
(Orphanet:666)
|
|
PAGOD syndrome
|
(Orphanet:991)
|
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PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
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(OMIM:214110)
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PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
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(OMIM:214110)
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PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
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(OMIM:614866)
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POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA
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(OMIM:263210)
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POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA
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(OMIM:263210)
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Pfeiffer-Palm-Teller syndrome
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(Orphanet:2871)
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Phenylketonuria
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(Orphanet:716)
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Pilotto syndrome
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(Orphanet:2894)
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Polysyndactyly - cardiac malformation
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(Orphanet:2934)
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Postaxial acrofacial dysostosis
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(Orphanet:246)
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Postaxial polydactyly - dental and vertebral anomalies
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(Orphanet:2916)
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Proteus syndrome
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(Orphanet:744)
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Prune belly syndrome
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(Orphanet:2970)
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Pseudodiastrophic dysplasia
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(Orphanet:85174)
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Pseudoxanthoma elasticum
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(Orphanet:758)
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Recombinant 8 syndrome
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(Orphanet:96167)
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Renpenning syndrome
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(Orphanet:3242)
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Roberts syndrome
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(Orphanet:3103)
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Rubinstein-Taybi syndrome
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(Orphanet:783)
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STERNUM, PREMATURE OBLITERATION OF SUTURES OF
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(OMIM:184800)
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STERNUM, PREMATURE OBLITERATION OF SUTURES OF
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(OMIM:184800)
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Saethre-Chotzen syndrome
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(Orphanet:794)
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Saethre-Chotzen syndrome
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(Orphanet:794)
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Schinzel-Giedion syndrome
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(Orphanet:798)
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Schisis association
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(Orphanet:63862)
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Septo-optic dysplasia
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(Orphanet:3157)
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Short rib-polydactyly syndrome
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(Orphanet:1505)
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Short rib-polydactyly syndrome, Verma-Naumoff type
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(Orphanet:93271)
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Short stature - craniofacial anomalies - genital hypoplasia
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(Orphanet:2994)
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Short stature - webbed neck - heart disease
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(Orphanet:2865)
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Shoulder and thorax deformity - congenital heart disease
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(Orphanet:1940)
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Simpson-Golabi-Behmel syndrome
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(Orphanet:373)
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Smith-Lemli-Opitz syndrome
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(Orphanet:818)
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Smith-Magenis syndrome
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(Orphanet:819)
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Smith-Magenis syndrome
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(Orphanet:819)
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Solitary median maxillary central incisor syndrome
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(Orphanet:2286)
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Splenogonadal fusion - limb defects - micrognathia
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(Orphanet:2063)
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Split hand-split foot malformation
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(Orphanet:2440)
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Steinert myotonic dystrophy
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(Orphanet:273)
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Symptomatic form of Coffin-Lowry syndrome in female carriers
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(Orphanet:276630)
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TARP syndrome
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(Orphanet:2886)
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TRISOMY 18-LIKE SYNDROME
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(OMIM:601161)
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Tetrasomy X
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(Orphanet:9)
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Thalidomide embryopathy
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(Orphanet:3312)
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Thanatophoric dysplasia
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(Orphanet:2655)
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Thiamine-responsive megaloblastic anemia syndrome
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(Orphanet:49827)
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Thomas syndrome
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(Orphanet:3316)
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Thrombocytopenia - Robin sequence
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(Orphanet:3323)
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Timothy syndrome
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(Orphanet:65283)
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Toriello-Carey syndrome
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(Orphanet:3338)
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Toriello-Carey syndrome
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(Orphanet:3338)
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Toriello-Lacassie-Droste syndrome
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(Orphanet:3339)
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Townes-Brocks syndrome
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(Orphanet:857)
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Transaldolase deficiency
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(Orphanet:101028)
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Transketolase deficiency
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(ORPHA:488618)
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Treacher-Collins syndrome
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(Orphanet:861)
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Treacher-Collins syndrome
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(Orphanet:861)
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Trisomy 12p
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(Orphanet:1699)
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Trisomy 13
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(Orphanet:3378)
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Trisomy 18
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(Orphanet:3380)
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Trisomy 20p
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(Orphanet:261318)
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Trisomy 4p
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(Orphanet:1738)
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Trisomy 8q
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(Orphanet:1752)
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VACTERL ASSOCIATION WITH HYDROCEPHALUS
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(OMIM:276950)
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VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
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(OMIM:314390)
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VACTERL with hydrocephalus
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(Orphanet:3412)
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VACTERL with hydrocephalus
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(Orphanet:3412)
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VACTERL/VATER association
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(Orphanet:887)
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Verloove Vanhorick-Brubakk syndrome
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(Orphanet:3429)
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Von Voss-Cherstvoy syndrome
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(Orphanet:3439)
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WEILL-MARCHESANI SYNDROME 1
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(OMIM:277600)
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Waardenburg syndrome type 1
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(Orphanet:894)
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Weaver syndrome
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(Orphanet:3447)
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Weill-Marchesani syndrome
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(Orphanet:3449)
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Wiedemann-Rautenstrauch syndrome
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(Orphanet:3455)
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Wiedemann-Rautenstrauch syndrome
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(Orphanet:3455)
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Wolf-Hirschhorn syndrome
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(Orphanet:280)
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X-linked Ehlers-Danlos syndrome
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(Orphanet:75497)
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X-linked Opitz G/BBB syndrome
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(Orphanet:306597)
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X-linked Opitz G/BBB syndrome
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(Orphanet:306597)
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Yunis-Varon syndrome
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(Orphanet:3472)
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