- Hyperkinetic movements (HP:0002487, a Human Phenotype Ontology term): Motor hyperactivity with excessive movement of muscles of the body as a whole. Evidence: IEA. (OMIM:277100)
- Vomiting (HP:0002013, a Human Phenotype Ontology term): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:277100)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:277100)
- Valinuria (HP:0033088, a Human Phenotype Ontology term): Urine valine level above the normal range. Evidence: TAS. (OMIM:277100)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:277100)
- Drowsiness (HP:0002329, a Human Phenotype Ontology term): Abnormal feeling of sleepiness or difficulty staying awake. Evidence: IEA. (OMIM:277100)
- Muscle weakness (HP:0001324, a Human Phenotype Ontology term): Reduced strength of muscles. Evidence: IEA. (OMIM:277100)
- Hypervalinemia (HP:0010910, a Human Phenotype Ontology term): The concentration of valine in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:277100)
These phenotypes are associated with the disease Valinemia (OMIM:277100, an entry in Online Mendelian Inheritance in Man).