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(HPO:0000194) | Open mouth | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000276) | Long face | Very frequent [Orphanet] | 109 / 7739 | |||
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(HPO:0000325) | Triangular face | Very frequent [Orphanet] | 91 / 7739 | |||
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(HPO:0000348) | High forehead | Very frequent [Orphanet] | 157 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0004326) | Cachexia | Very frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Frequent [Orphanet] | 64 / 7739 |