Phenotypes associated with the disease thyroid dyshormonogenesis 2A (OMIM:274500):
- Decreased circulating T4 concentration (HP:0031507): A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). Evidence: PCS. Frequency: 1/1. (PMID:8027236)
- Thyroid defect in oxidation and organification of iodide (HP:0008263). Evidence: PCS. Frequency: 1/1. (PMID:8027236)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:8027236)
- 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: IEA. (OMIM:274500)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:8027236)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: PCS. Frequency: 1/1. (PMID:8027236)