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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2608
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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