Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
9126 | SMC3 | structural maintenance of chromosomes 3 | |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
9469 | CHST3 | carbohydrate sulfotransferase 3 | |
9791 | PTDSS1 | phosphatidylserine synthase 1 | |
9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
10585 | POMT1 | protein O-mannosyltransferase 1 | |
10682 | EBP | EBP cholestenol delta-isomerase | |
11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 |
HPO ID | HPO Term |
---|---|
HP:0001181 | Adducted thumb |
HP:0010864 | Intellectual disability, severe |
HP:0001257 | Spasticity |
HP:0000486 | Strabismus |
HP:0001387 | Joint stiffness |
HP:0001249 | Intellectual disability |
HP:0009600 | Thumb contracture |
HP:0000256 | Macrocephaly |
HP:0001258 | Spastic paraplegia |
HP:0001419 | X-linked recessive inheritance |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024