HPO ID | HPO Term |
---|---|
HP:0011003 | High myopia |
HP:0011197 | EEG with focal spike waves |
HP:0011344 | Severe global developmental delay |
HP:0002514 | Cerebral calcification |
HP:0000007 | Autosomal recessive inheritance |
HP:0001290 | Generalized hypotonia |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0003593 | Infantile onset |
HP:0002878 | Respiratory failure |
Gene ID | Gene Symbol | Description |
---|---|---|
10329 | RXYLT1 | ribitol xylosyltransferase 1 |
10585 | POMT1 | protein O-mannosyltransferase 1 |
11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 |
148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
1605 | DAG1 | dystroglycan 1 |
2218 | FKTN | fukutin |
29954 | POMT2 | protein O-mannosyltransferase 2 |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
79147 | FKRP | fukutin related protein |
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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