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Hydrocephaly-cerebellar agenesis syndrome
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.
ORPHA:1397
Summary
Epidemiology
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.
Additional information
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