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Pitt-Hopkins syndrome [Supplementary Concept]

A developmental disorder characterized by intellectual disability, wide mouth and distinctive facies, and intermittent hyperventilation followed by APNEA. It is caused by de novo autosomal dominant mutations in the TCF4 gene. OMIM: 610954

Date introduced: August 25, 2010

MeSH Unique ID: C537403

Heading Mapped to:

Entry Terms:

  • Pitt Hopkins syndrome
  • Mental Retardation, Syndromal, With Intermittent Hyperventilation
  • Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

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