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Cerebellum agenesis-hydrocephaly syndrome

Synonym(s) -
Prevalence Unknown
Inheritance X-linked recessive
Age of onset Infancy
  • Q04.3
MeSH -
MedDRA -


Disease definition

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.

Differential diagnosis

Analysis of muscle biopsy samples indicated that this syndrome is distinct from Marinesco-Sjögren syndrome.

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