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- B7f4c5186a58fce23c98f7a73be0e818e hasDbXref "Orphanet:1397" @default.
- B7f4c5186a58fce23c98f7a73be0e818e type Axiom @default.
- B7f4c5186a58fce23c98f7a73be0e818e annotatedProperty IAO_0000115 @default.
- B7f4c5186a58fce23c98f7a73be0e818e annotatedSource MONDO_0010612 @default.
- B7f4c5186a58fce23c98f7a73be0e818e 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.