UniProt ID | Protein Name | Source |
---|---|---|
Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000154 | Wide mouth |
HP:0000158 | Macroglossia |
HP:0000179 | Thick lower lip vermilion |
HP:0000187 | Broad alveolar ridges |
HP:0000256 | Macrocephaly |
HP:0000280 | Coarse facial features |
HP:0000316 | Hypertelorism |
HP:0000365 | Hearing impairment |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024