Human (44 sources):
Abnormal metabolic brain imaging by MRS,
Abnormality of higher mental function,
Acidosis,
Agitation,
Anorexia,
Apathy,
Ataxia,
Body odor,
Coma,
Cough,
Dehydration,
Diarrhea,
Edema,
Episodic ketoacidosis,
Excessive daytime somnolence,
Extrapyramidal dyskinesia,
Fever,
Hepatomegaly,
Hyperammonemia,
Hyperglycemia,
Hypertension,
Hyperuricemia,
Hypoglycemia,
Hyporeflexia,
Hypotension,
Hypotonia,
Increased circulating lactate concentration,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, severe,
Ketoacidosis,
Ketonuria,
Leukocytosis,
Metabolic acidosis,
Motor delay,
Oral aversion,
Pallor,
Reduced consciousness/confusion,
Seizure,
Spasticity,
Tachypnea,
Thrombocytosis,
Vomiting,
Weight loss
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.