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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
        
        5q14.3 microdeletion syndrome ORPHA:228384

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
      - 5q14.3 microdeletion syndrome ORPHA:228384

Rare genetic disease ORPHA:98053
- Rare chromosomal anomaly ORPHA:68335
  - Autosomal anomaly ORPHA:98127
    - Autosomal monosomy ORPHA:102020
      - Partial autosomal monosomy ORPHA:98142
        
        Partial deletion of chromosome 5 ORPHA:261786
        
        Partial deletion of the long arm of chromosome 5 ORPHA:262038
        
        5q14.3 microdeletion syndrome ORPHA:228384

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Rare genetic epilepsy ORPHA:183512
    - Chromosomal anomaly with epilepsy as a major feature ORPHA:166469
      - 5q14.3 microdeletion syndrome ORPHA:228384

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