HPO ID | HPO Term |
---|---|
HP:0001266 | Choreoathetosis |
HP:0002527 | Falls |
HP:0000750 | Delayed speech and language development |
HP:0010852 | EEG with photoparoxysmal response |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0000639 | Nystagmus |
HP:0002078 | Truncal ataxia |
HP:0001260 | Dysarthria |
HP:0003676 | Progressive |
HP:0001288 | Gait disturbance |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024