UniProt ID | Protein Name | Source |
---|---|---|
Q9UP83 | Conserved oligomeric Golgi complex subunit 5 |
HPO ID | HPO Term |
---|---|
HP:0001272 | Cerebellar atrophy |
HP:0001348 | Brisk reflexes |
HP:0001433 | Hepatosplenomegaly |
HP:0001511 | Intrauterine growth retardation |
HP:0001562 | Oligohydramnios |
HP:0002078 | Truncal ataxia |
HP:0002240 | Hepatomegaly |
HP:0002342 | Intellectual disability, moderate |
HP:0002506 | Diffuse cerebral atrophy |
HP:0002857 | Genu valgum |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024