|
|
(HPO:0000194) | Open mouth | 70 / 7739 | ||||
|
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(HPO:0000218) | High palate | 356 / 7739 | ||||
|
|
(HPO:0000486) | Strabismus | 576 / 7739 | ||||
|
|
(HPO:0000506) | Telecanthus | rare [HPO:skoehler] | 156 / 7739 | |||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
|
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
|
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
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(HPO:0001336) | Myoclonus | 115 / 7739 | ||||
|
|
(HPO:0001344) | Absent speech | 57 / 7739 | ||||
|
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(HPO:0002058) | Myopathic facies | 26 / 7739 | ||||
|
|
(HPO:0002093) | Respiratory insufficiency | 410 / 7739 | ||||
|
|
(HPO:0002136) | Broad-based gait | rare [HPO:skoehler] | 30 / 7739 | |||
|
|
(HPO:0003429) | CNS hypomyelination | 21 / 7739 | ||||
|
|
(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
|
|
(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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|
(HPO:0012448) | Delayed myelination | 51 / 7739 |