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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0002078) | Truncal ataxia | 41 / 7739 | ||||
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(HPO:0003642) | Type I transferrin isoform profile | 16 / 7739 | ||||
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(HPO:0007366) | Atrophy/Degeneration affecting the brainstem | 4 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |