Orphanet: N syndrome

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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

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 310465
UMLS: C2936859
MeSH: C536108
GARD: 3902
MedDRA: -

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.

- Last update: November 2006

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