UniProt ID | Protein Name | Source |
---|---|---|
Q4G176 | Malonate--CoA ligase ACSF3, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0001508 | Failure to thrive |
HP:0002354 | Memory impairment |
HP:0001250 | Seizure |
HP:0003215 | Dicarboxylic aciduria |
HP:0001993 | Ketoacidosis |
HP:0000708 | Atypical behavior |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0001943 | Hypoglycemia |
HP:0011169 | Generalized clonic seizure |
HP:0001298 | Encephalopathy |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024