|
|
(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
|
|
(HPO:0000752) | Hyperactivity | 140 / 7739 | ||||
|
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
|
(HPO:0001251) | Ataxia | 413 / 7739 | ||||
|
|
(HPO:0001257) | Spasticity | 251 / 7739 | ||||
|
|
(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
|
|
(HPO:0001298) | Encephalopathy | 72 / 7739 | ||||
|
|
(HPO:0001332) | Dystonia | 197 / 7739 | ||||
|
|
(HPO:0001336) | Myoclonus | 115 / 7739 | ||||
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|
(HPO:0001337) | Tremor | 200 / 7739 | ||||
|
|
(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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|
(HPO:0002059) | Cerebral atrophy | 171 / 7739 | ||||
|
|
(HPO:0002155) | Hypertriglyceridemia | rare [HPO:skoehler] | 67 / 7739 | |||
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|
(HPO:0002240) | Hepatomegaly | rare [HPO:skoehler] | 467 / 7739 | |||
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(HPO:0002273) | Tetraparesis | 15 / 7739 | ||||
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|
(HPO:0002371) | Loss of speech | 15 / 7739 | ||||
|
|
(HPO:0002376) | Developmental regression | 74 / 7739 | ||||
|
|
(HPO:0002529) | Neuronal loss in central nervous system | 37 / 7739 | ||||
|
|
(HPO:0007256) | Abnormal pyramidal signs | 116 / 7739 |