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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001622) | Premature birth | Frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0001488) | Bilateral ptosis | 42 / 7739 | ||||
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(HPO:0001608) | Abnormality of the voice | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0001601) | Laryngomalacia | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(OMIM) | Bilateral recurrent laryngeal nerve paralysis | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0001605) | Vocal cord paralysis | 13 / 7739 |