HPO ID | HPO Term |
---|---|
HP:0002714 | Downturned corners of mouth |
HP:0003155 | Elevated circulating alkaline phosphatase concentration |
HP:0006118 | Shortening of all distal phalanges of the fingers |
HP:0006808 | Cerebral hypomyelination |
HP:0008947 | Infantile muscular hypotonia |
HP:0010804 | Tented upper lip vermilion |
HP:0010850 | EEG with spike-wave complexes |
HP:0010864 | Intellectual disability, severe |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0000007 | Autosomal recessive inheritance |
Gene ID | Gene Symbol | Description |
---|---|---|
27315 | PGAP2 | post-GPI attachment to proteins 2 |
284098 | PIGW | phosphatidylinositol glycan anchor biosynthesis class W |
55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V |
84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O |
84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y |
93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 |
9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L |
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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