UniProt ID | Protein Name | Source |
---|---|---|
P17050 | Alpha-N-acetylgalactosaminidase |
HPO ID | HPO Term |
---|---|
HP:0001252 | Hypotonia |
HP:0004374 | Hemiplegia/hemiparesis |
HP:0000717 | Autism |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0000518 | Cataract |
HP:0002363 | Abnormal brainstem morphology |
HP:0001009 | Telangiectasia |
HP:0010864 | Intellectual disability, severe |
HP:0001324 | Muscle weakness |
HP:0000486 | Strabismus |
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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