N syndrome

N syndrome is characterised by intellectual deficit, deafness, Ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Additional Information

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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