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(HPO:0000256) | Macrocephaly | 2/8 [HPO:probinson] | 17989220 | IBIS | 298 / 7739 | |
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(HPO:0000717) | Autism | 2/8 [HPO:probinson] | 17989220 | IBIS | 108 / 7739 | |
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(HPO:0001249) | Intellectual disability | 17989220 | IBIS | 1089 / 7739 | ||
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(HPO:0001250) | Seizures | 2/8 [HPO:probinson] | 17989220 | IBIS | 1245 / 7739 | |
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(HPO:0001265) | Hyporeflexia | 2/8 [HPO:probinson] | 17989220 | IBIS | 208 / 7739 | |
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(HPO:0001336) | Myoclonus | 2/8 [HPO:probinson] | 17989220 | IBIS | 115 / 7739 | |
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(HPO:0001533) | Slender build | 6/8 [HPO:probinson] | 17989220 | IBIS | 11 / 7739 | |
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(HPO:0002460) | Distal muscle weakness | 2/8 [HPO:probinson] | 17989220 | IBIS | 122 / 7739 | |
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(HPO:0000248) | Brachycephaly | 222 / 7739 | ||||
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(HPO:0000336) | Prominent supraorbital ridges | 45 / 7739 | ||||
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(HPO:0000490) | Deeply set eye | 131 / 7739 | ||||
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(HPO:0000718) | Aggressive behavior | 109 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 |