Rett Syndrome

An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Also Known As:

Rett's Disorder; Syndrome, Rett; Rett's Syndrome; Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome; Cerebroatrophic Hyperammonemia; Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use; Rett Disorder; Cerebroatrophic Hyperammonemias; Hyperammonemia, Cerebroatrophic; Hyperammonemias, Cerebroatrophic; Retts Syndrome; Syndrome, Rett's; Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        Rett Syndrome: 1475
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - Rett Syndrome: 1475
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - Rett Syndrome: 1475

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