HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0010851 | EEG with burst suppression |
HP:0000494 | Downslanted palpebral fissures |
HP:0002415 | Leukodystrophy |
HP:0000098 | Tall stature |
HP:0001321 | Cerebellar hypoplasia |
HP:0003819 | Death in childhood |
HP:0001252 | Hypotonia |
HP:0000007 | Autosomal recessive inheritance |
HP:0001347 | Hyperreflexia |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024