UniProt ID | Protein Name | Source |
---|---|---|
Q06136 | 3-ketodihydrosphingosine reductase | |
Q9GZR5 | Very long chain fatty acid elongase 4 |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0200035 | Skin plaque |
HP:0000958 | Dry skin |
HP:0007400 | Irregular hyperpigmentation |
HP:0000411 | Protruding ear |
HP:0001824 | Weight loss |
HP:0010783 | Erythema |
HP:0000992 | Cutaneous photosensitivity |
HP:0000252 | Microcephaly |
HP:0001596 | Alopecia |
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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