UniProt ID | Protein Name | Source |
---|---|---|
Q99424 | Peroxisomal acyl-coenzyme A oxidase 2 |
HPO ID | HPO Term |
---|---|
HP:0001350 | Slurred speech |
HP:0001251 | Ataxia |
HP:0100512 | Decreased circulating vitamin D concentration |
HP:0000511 | Vertical supranuclear gaze palsy |
HP:0002570 | Steatorrhea |
HP:0001263 | Global developmental delay |
HP:0000007 | Autosomal recessive inheritance |
HP:0002066 | Gait ataxia |
HP:0001256 | Intellectual disability, mild |
HP:0003593 | Infantile onset |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024