UniProt ID | Protein Name | Source |
---|---|---|
O60502 | Protein O-GlcNAcase | |
P06865 | Beta-hexosaminidase subunit alpha | |
P07686 | Beta-hexosaminidase subunit beta | |
P17900 | Ganglioside GM2 activator |
HPO ID | HPO Term |
---|---|
HP:0002421 | Poor head control |
HP:0000007 | Autosomal recessive inheritance |
HP:0000726 | Dementia |
HP:0003593 | Infantile onset |
HP:0001263 | Global developmental delay |
HP:0008936 | Axial hypotonia |
HP:0001285 | Spastic tetraparesis |
HP:0003470 | Paralysis |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024