UniProt ID | Protein Name | Source |
---|---|---|
Q15067 | Peroxisomal acyl-coenzyme A oxidase 1 |
HPO ID | HPO Term |
---|---|
HP:0003487 | Babinski sign |
HP:0000007 | Autosomal recessive inheritance |
HP:0002415 | Leukodystrophy |
HP:0006887 | Intellectual disability, progressive |
HP:0008763 | No social interaction |
HP:0003593 | Infantile onset |
HP:0002007 | Frontal bossing |
HP:0011344 | Severe global developmental delay |
HP:0001319 | Neonatal hypotonia |
HP:0008167 | Very long chain fatty acid accumulation |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024