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Cerebellum agenesis - hydrocephaly

Orpha number	ORPHA1397
Synonym(s)	-
Prevalence	Unknown
Inheritance	X-linked recessive
Age of onset	Neonatal/infancy

ICD-10	Q04.3
OMIM	307010
UMLS	-
MeSH	-
MedDRA	-
SNOMED CT	-

Summary

This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported. It has been described in four patients from two families. Analysis of muscle biopsy samples indicated that this syndrome is distinct from Marinesco-Sjögren syndrome.

Last update: August 2006

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