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Cockayne syndrome type 1

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  • Q87.8
  • C0751039
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MedDRA -


Cockayne syndrome type 1 (CS1) is the classical moderate form of Cockayne syndrome (see this term) presenting in early childhood (1-2 years of age) and characterized by the progressive nature of growth failure, impairment of vision, hearing, a characteristic facial appearance, premature aging, photosensitivity and neurological dysfunction leading to severe intellectual disability with death occurring typically in the second decade as a result of progressive neurologic degeneration.

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