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CHARGE syndrome

Pathology: 1) tetralogy of Fallot & other cardiac anomalies 2) colobomas 3) choanal atresia 4) mental retardation & growth deficiency 5) genital & ear anomalies Genetics: - most affected individuals have mutations in the CHD7 gene

General

developmental disorder syndrome

Database Correlations

OMIM 214800

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1039
  2. OMIM :accession 214800