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17 Result(s)

ORPHA:68378  Congenital limb malformation

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ORPHA:98553  Developmental defect of the eye

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ORPHA:98039  Digestive tract malformation

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ORPHA:90771  Disorder of sex development

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ORPHA:102285  Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

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ORPHA:102283  Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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ORPHA:108989  Non-syndromic central nervous system malformation

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ORPHA:139012  Rare bone development disorder

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ORPHA:68335  Rare chromosomal anomaly

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ORPHA:88991  Rare congenital non-syndromic heart malformation

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ORPHA:139030  Rare developmental defect with connective tissue involvement

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ORPHA:180772  Rare disease with autism

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ORPHA:155832  Rare head and neck malformation

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ORPHA:102369  Rare syndromic intellectual disability

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ORPHA:108991  Syndrome with a central nervous system malformation as a major feature

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ORPHA:83001  Urogenital tract malformation

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ORPHA:98041  Visceral malformation of the liver, biliary tract, pancreas or spleen

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