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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Very frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0002132) | Porencephaly | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0002301) | Hemiplegia | 42 / 7739 | ||||
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(HPO:0004374) | Hemiplegia/hemiparesis | Frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0000577) | Exotropia | 43 / 7739 | ||||
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(HPO:0001123) | Visual field defect | 30 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(HPO:0002140) | Ischemic stroke | 70 / 7739 | ||||
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(HPO:0002273) | Tetraparesis | 15 / 7739 | ||||
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(HPO:0002352) | Leukoencephalopathy | 32 / 7739 | ||||
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(HPO:0002451) | Limb dystonia | 16 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0010636) | Schizencephaly | 5 / 7739 |