UniProt ID | Protein Name | Source |
---|---|---|
P10619 | Lysosomal protective protein |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0007957 | Corneal opacity |
HP:0000365 | Hearing impairment |
HP:0002652 | Skeletal dysplasia |
HP:0000280 | Coarse facial features |
HP:0003468 | Abnormal vertebral morphology |
HP:0000925 | Abnormality of the vertebral column |
HP:0010729 | Cherry red spot of the macula |
HP:0001250 | Seizure |
HP:0000524 | Conjunctival telangiectasia |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 7, 2025