UniProt ID | Protein Name | Source |
---|---|---|
Q9UKY4 | Protein O-mannosyl-transferase 2 |
HPO ID | HPO Term |
---|---|
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0011712 | Right bundle branch block |
HP:0002119 | Ventriculomegaly |
HP:0006785 | Limb-girdle muscular dystrophy |
HP:0001328 | Specific learning disability |
HP:0003691 | Scapular winging |
HP:0007126 | Proximal amyotrophy |
HP:0002355 | Difficulty walking |
HP:0001263 | Global developmental delay |
HP:0003551 | Difficulty climbing stairs |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 7, 2025