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(HPO:0000248) | Brachycephaly | 222 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000294) | Low anterior hairline | 52 / 7739 | ||||
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(HPO:0000311) | Round face | 104 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000475) | Broad neck | 12 / 7739 | ||||
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(HPO:0000678) | Dental crowding | 65 / 7739 | ||||
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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0001310) | Dysmetria | 76 / 7739 | ||||
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(HPO:0002020) | Gastroesophageal reflux | 101 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 | ||||
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(HPO:0002064) | Spastic gait | 46 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | 327 / 7739 | ||||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 | ||||
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(HPO:0002871) | Central apnea | 10 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(OMIM) | Chubby appearance | 1 / 7739 | ||||
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(OMIM) | Hypomimia | 3 / 7739 | ||||
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(OMIM) | Short broad neck | 3 / 7739 | ||||
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(OMIM) | Central apnea, episodic | 1 / 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) | Rigid gait | 2 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(OMIM) | Episodes of decreased alertness, hypotonia, and poor respiration requiring mechanical ventilation | 1 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 |