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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0001293) | Cranial nerve compression | 1 / 7739 | ||||
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(HPO:0004334) | Dermal atrophy | 34 / 7739 | ||||
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(HPO:0100255) | Metaphyseal dysplasia | 26 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |