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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000565) | Esotropia | 58 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(OMIM) | Mild brain anomalies on MRI (e.g., dilated ventricles) (in some patients) | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 |