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Cerebellum agenesis - hydrocephaly

Orpha number ORPHA1397
Synonym(s) -
Prevalence Unknown
Inheritance X-linked recessive
Age of onset Infancy
ICD-10
  • Q04.3
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

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.


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