N syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2608
Definition
N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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