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Meacham syndrome

Epidemiology: rare Pathology: - multiple malformations Genetics: - sporadic - associated with defects in WT1 Clinical manifestations: - male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus & double or septate vagina - complex congenital heart defect - diaphragmatic abnormalities Laboratory: - WT1 gene mutation

General

genetic syndrome (multisystem disorder) pseudohermaphroditism; indeterminate sex; gynandrism

Database Correlations

OMIM 608978

References

  1. OMIM :accession 608978
  2. UniProt :accession P19544