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N syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Infancy
  • Q87.8
  • C2936859
  • C536108
MedDRA -


N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. Three cases have been described so far. Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. X-linked recessive transmission has been proposed.

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