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(HPO:0000280) | Coarse facial features | Very frequent [Orphanet] | 189 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Very frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0002019) | Constipation | Very frequent [Orphanet] | 194 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0002360) | Sleep disturbance | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
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(HPO:0003326) | Myalgia | Very frequent [Orphanet] | 143 / 7739 | |||
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(HPO:0003712) | Skeletal muscle hypertrophy | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000158) | Macroglossia | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |