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- B71b741a5c971a046396bfd9bdae178ef hasDbXref "Orphanet:1397" @default.
- B71b741a5c971a046396bfd9bdae178ef type Axiom @default.
- B71b741a5c971a046396bfd9bdae178ef annotatedProperty IAO_0000115 @default.
- B71b741a5c971a046396bfd9bdae178ef annotatedSource MONDO_0010612 @default.
- B71b741a5c971a046396bfd9bdae178ef annotatedTarget "This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." @default.