- Abnormal circulating free T4 concentration (HP:0033076, a Human Phenotype Ontology term): A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. Evidence: PCS. Frequency: 0/2. (PMID:8064810)
- Increased circulating free T4 concentration (HP:0033077, a Human Phenotype Ontology term): An elevated concentration of free thyroxine (fT4) in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:29676214)
- Abnormal circulating thyroid-stimulating hormone concentration (HP:0031097, a Human Phenotype Ontology term): Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. Evidence: PCS. Frequency: 0/1. (PMID:29676214)
- 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: PCS. (PMID:29676214)
- Euthyroid hyperthyroxinemia (HP:0008247, a Human Phenotype Ontology term): Increased levels of thyroxine without evidence of clinical thyroid disease. Evidence: PCS. Frequency: 3/3. (PMID:29676214;PMID:8064810)
- Autosomal dominant inheritance (HP:0000006, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:8064810)
These phenotypes are associated with the disease hyperthyroxinemia, familial dysalbuminemic (OMIM:615999, an entry in Online Mendelian Inheritance in Man).