Coffin-Lowry Syndrome

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

Also Known As:

Syndrome, Coffin-Lowry; Coffin Syndrome; Mental Retardation with Osteocartilaginous Abnormalities; Coffin Lowry Syndrome; Syndrome, Coffin

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        Coffin-Lowry Syndrome: 55
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - Coffin-Lowry Syndrome: 55
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - Coffin-Lowry Syndrome: 55

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Disease

Drug/Important Bio-Agent (IBA)