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Okamoto syndrome

Orpha number	ORPHA2729
Synonym(s)	-
Prevalence	<1 / 1 000 000
Inheritance	Unknown
Age of onset	Neonatal/infancy

ICD-10	Q87.8
OMIM	604916
UMLS	-
MeSH	-
MedDRA	-
SNOMED CT	-

Summary

Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.

Last update: March 2006

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