HPO ID | HPO Term |
---|---|
HP:0002120 | Cerebral cortical atrophy |
HP:0000648 | Optic atrophy |
HP:0010862 | Delayed fine motor development |
HP:0000448 | Prominent nose |
HP:0002650 | Scoliosis |
HP:0002015 | Dysphagia |
HP:0000010 | Recurrent urinary tract infections |
HP:0002509 | Limb hypertonia |
HP:0001321 | Cerebellar hypoplasia |
HP:0003623 | Neonatal onset |
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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