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N syndrome

Orpha number	ORPHA2608
Synonym(s)	-
Prevalence	<1 / 1 000 000
Inheritance	X-linked recessive
Age of onset	Neonatal/infancy

ICD-10	Q87.8
OMIM	310465
UMLS	C2936859
MeSH	C536108
MedDRA	-
SNOMED CT	-

Summary

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.

Last update: November 2006

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