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Van den Bosch syndrome

Disease definition

Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: No data available
  • ICD-10: -
  • OMIM: 314500
  • UMLS: C0796192
  • MeSH: -
  • GARD: 5453
  • MedDRA: -
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