UniProt ID | Protein Name | Source |
---|---|---|
P60891 | Ribose-phosphate pyrophosphokinase 1 |
HPO ID | HPO Term |
---|---|
HP:0003431 | Decreased motor nerve conduction velocity |
HP:0001270 | Motor delay |
HP:0008936 | Axial hypotonia |
HP:0000639 | Nystagmus |
HP:0007258 | Severe demyelination of the white matter |
HP:0012389 | Appendicular hypotonia |
HP:0002342 | Intellectual disability, moderate |
HP:0000505 | Visual impairment |
HP:0002719 | Recurrent infections |
HP:0008311 | Spinal cord posterior columns myelin loss |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024