Pitt-Hopkins syndrome

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

Also Known As:

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

Respiratory Tract Diseases: 6015
- Respiration Disorders: 18
  - Hyperventilation: 3092
    - Pitt-Hopkins syndrome: 52
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - Pitt-Hopkins syndrome: 52
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Pitt-Hopkins syndrome: 52
  - Respiratory Signs and Symptoms: 23
    - Hyperventilation: 3092
      - Pitt-Hopkins syndrome: 52
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Pitt-Hopkins syndrome: 52
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Pitt-Hopkins syndrome: 52
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Pitt-Hopkins syndrome: 52

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Disease

Drug/Important Bio-Agent (IBA)