UniProt ID | Protein Name | Source |
---|---|---|
Q6P1J6 | Phospholipase B1, membrane-associated |
HPO ID | HPO Term |
---|---|
HP:0002493 | Upper motor neuron dysfunction |
HP:0002505 | Loss of ambulation |
HP:0002506 | Diffuse cerebral atrophy |
HP:0002516 | Increased intracranial pressure |
HP:0002518 | Abnormal periventricular white matter morphology |
HP:0002719 | Recurrent infections |
HP:0002878 | Respiratory failure |
HP:0002922 | Increased CSF protein concentration |
HP:0003474 | Somatic sensory dysfunction |
HP:0003484 | Upper limb muscle weakness |
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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