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Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Rare genetic intellectual disability ORPHA:183757
    - Rare genetic syndromic intellectual disability ORPHA:183763
      - Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:611327
        
        Shprintzen-Goldberg syndrome ORPHA:2462

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic multiple congenital anomalies/dysmorphic syndrome ORPHA:183533
    - Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:611327
      - Shprintzen-Goldberg syndrome ORPHA:2462

Rare genetic disease ORPHA:98053
- Rare genetic systemic or rheumatologic disease ORPHA:271870
  - Rare hereditary connective tissue disease ORPHA:619249
    - Marfan syndrome and Marfan-related disorders ORPHA:284993
      - Shprintzen-Goldberg syndrome ORPHA:2462

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Rare genetic bone development disorder ORPHA:404584
    - Dysostosis of genetic origin ORPHA:404568
      - Craniosynostosis ORPHA:1531
        
        Syndromic craniosynostosis ORPHA:139393
        
        Shprintzen-Goldberg syndrome ORPHA:2462

Rare genetic disease ORPHA:98053
- Rare genetic bone disease ORPHA:183524
  - Dysostosis of genetic origin ORPHA:404568
    - Craniosynostosis ORPHA:1531
      - Syndromic craniosynostosis ORPHA:139393
        
        Shprintzen-Goldberg syndrome ORPHA:2462

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic cranial malformation ORPHA:183542
    - Craniosynostosis ORPHA:1531
      - Syndromic craniosynostosis ORPHA:139393
        
        Shprintzen-Goldberg syndrome ORPHA:2462

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