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Glossary for Microcephaly, mental retardation and tracheoesophageal fistula associated with features of Rett Syndrome

  • Blaichman syndrome: A very rare genetic disorder characterized by a malformation where there is an opening between the trachea and esophagus. Webbing of the fifth finger is also present.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.

 

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