Gene ID | Gene Symbol | Description | Source | Organism |
---|---|---|---|---|
444520 | pomgnt2.L | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) L homeolog | Xenopus laevis (African clawed frog) | |
496628 | pomgnt2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Xenopus tropicalis (tropical clawed frog) |
HPO ID | HPO Term |
---|---|
HP:0003593 | Infantile onset |
HP:0001263 | Global developmental delay |
HP:0008981 | Calf muscle hypertrophy |
HP:0000750 | Delayed speech and language development |
HP:0003693 | Distal amyotrophy |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0000007 | Autosomal recessive inheritance |
HP:0003621 | Juvenile onset |
HP:0001270 | Motor delay |
HP:0003701 | Proximal muscle weakness |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024