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56 Result(s)

ORPHA:15  Achondroplasia

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ORPHA:2299  Aortic arch interruption

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ORPHA:87  Apert syndrome

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ORPHA:1201  Atresia of small intestine

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ORPHA:2512  Autosomal recessive primary microcephaly

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ORPHA:3027  Caudal regression sequence

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ORPHA:1991  Cleft lip with or without cleft palate

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ORPHA:2014  Cleft palate

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ORPHA:1198  Colonic atresia

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ORPHA:1329  Complete atrioventricular septal defect

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ORPHA:973  Congenital absence/hypoplasia of fingers excluding thumb, unilateral

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ORPHA:2140  Congenital diaphragmatic hernia

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ORPHA:3090  Congenital pulmonary venous return anomaly

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ORPHA:2040  Congenital respiratory-biliary fistula

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ORPHA:3091  Congenital systemic veins anomaly

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ORPHA:860  Congenitally uncorrected transposition of the great arteries

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ORPHA:2445  Conotruncal heart malformations

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ORPHA:98553  Developmental defect of the eye

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ORPHA:1666  Dextrocardia

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ORPHA:870  Down syndrome

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ORPHA:1203  Duodenal atresia

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ORPHA:91492  Early-onset non-syndromic cataract

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ORPHA:1880  Ebstein malformation of the tricuspid valve

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ORPHA:1199  Esophageal atresia

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ORPHA:883  Extragonadal teratoma

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ORPHA:1987  Femoral agenesis/hypoplasia

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ORPHA:2368  Gastroschisis

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ORPHA:2130  Hemimelia

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ORPHA:2162  Holoprosencephaly

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ORPHA:2182  Hydrocephalus with stenosis of the aqueduct of Sylvius

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ORPHA:2248  Hypoplastic left heart syndrome

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ORPHA:1478  Interatrial communication

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ORPHA:718  Isolated Pierre Robin syndrome

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ORPHA:1048  Isolated anencephaly/exencephaly

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ORPHA:2542  Isolated microphthalmia-anophthalmia-coloboma

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ORPHA:823  Isolated spina bifida

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ORPHA:2440  Isolated split hand-split foot malformation

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ORPHA:1202  Larynx atresia

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ORPHA:2006  Median cleft lip/mandibule

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ORPHA:568  Microphthalmia, Lenz type

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ORPHA:83463  Microtia

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ORPHA:3388  Neural tube defect

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ORPHA:557  Non-syndromic anorectal malformation

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ORPHA:498467  Non-syndromic postaxial polydactyly

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ORPHA:498464  Non-syndromic preaxial polydactyly

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ORPHA:660  Omphalocele

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ORPHA:1330  Partial atrioventricular septal defect

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ORPHA:2911  Poland syndrome

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ORPHA:93321  Radial hemimelia

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ORPHA:88991  Rare congenital non-syndromic heart malformation

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ORPHA:1848  Renal agenesis, bilateral

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ORPHA:799  Schizencephaly

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ORPHA:3303  Tetralogy of Fallot

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ORPHA:3378  Trisomy 13

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ORPHA:3380  Trisomy 18

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ORPHA:3384  Truncus arteriosus

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