HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000639 | Nystagmus |
HP:0000726 | Dementia |
HP:0000750 | Delayed speech and language development |
HP:0001249 | Intellectual disability |
HP:0001260 | Dysarthria |
HP:0001263 | Global developmental delay |
HP:0001266 | Choreoathetosis |
HP:0001272 | Cerebellar atrophy |
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: February 17, 2025