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(HPO:0000098) | Tall stature | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0005616) | Accelerated skeletal maturation | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0012062) | Bone cyst | Very frequent [Orphanet] | 19 / 7739 |