Phenotypes associated with the disease hypervalinemia and hyperleucine-isoleucinemia (OMIM:618850):
- Hyperisoleucinemia (HP:0010913): The concentration of isoleucine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:25653144)
- Autosomal recessive inheritance (HP:0000007): 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: PCS. (PMID:25653144)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: PCS. Frequency: 1/1. (PMID:25653144)
- Hoffmann sign (HP:0031993): A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. Evidence: PCS. Frequency: 1/1. (PMID:25653144)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 1/1. (PMID:25653144)
- Hyperleucinemia (HP:0010911): The concentration of leucine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:25653144)
- Hypervalinemia (HP:0010910): The concentration of valine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:25653144)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 1/1. (PMID:25653144)
- Brisk reflexes (HP:0001348): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: PCS. Frequency: 1/1. (PMID:25653144)