UniProt ID | Protein Name | Source |
---|---|---|
P19971 | Thymidine phosphorylase | |
P53597 | Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial | |
Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0000762 | Decreased nerve conduction velocity |
HP:0002514 | Cerebral calcification |
HP:0000508 | Ptosis |
HP:0004322 | Short stature |
HP:0001265 | Hyporeflexia |
HP:0000407 | Sensorineural hearing impairment |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0001251 | Ataxia |
HP:0006887 | Intellectual disability, progressive |
HP:0000649 | Abnormality of visual evoked potentials |
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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: August 19, 2024