UniProt ID | Protein Name | Source |
---|---|---|
P36871 | Phosphoglucomutase-1 | |
Q8NFI3 | Cytosolic endo-beta-N-acetylglucosaminidase | |
Q96IV0 | Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase |
HPO ID | HPO Term |
---|---|
HP:0012447 | Abnormal myelination |
HP:0012448 | Delayed myelination |
HP:0012450 | Chronic constipation |
HP:0012469 | Infantile spasms |
HP:0100899 | Sclerosis of finger phalanx |
HP:0000007 | Autosomal recessive inheritance |
HP:0000194 | Open mouth |
HP:0000248 | Brachycephaly |
HP:0000252 | Microcephaly |
HP:0000275 | Narrow face |
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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