UniProt ID | Protein Name | Source |
---|---|---|
Q15067 | Peroxisomal acyl-coenzyme A oxidase 1 |
HPO ID | HPO Term |
---|---|
HP:0001276 | Hypertonia |
HP:0000639 | Nystagmus |
HP:0002240 | Hepatomegaly |
HP:0000407 | Sensorineural hearing impairment |
HP:0001522 | Death in infancy |
HP:0010864 | Intellectual disability, severe |
HP:0001161 | Hand polydactyly |
HP:0000316 | Hypertelorism |
HP:0001252 | Hypotonia |
HP:0002093 | Respiratory insufficiency |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024