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N syndrome
Disease definition
N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.
ORPHA:2608
Summary
Epidemiology
Three cases have been described so far.
Etiology
Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome.
Genetic counseling
X-linked recessive transmission has been proposed.
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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