- Elevated circulating thyroglobulin concentration (HP:0025484, a Human Phenotype Ontology term): The concentration of thyroglobulin in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 13/13. (PMID:38714868)
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 5/13. (PMID:38714868)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 8/13. (PMID:38714868)
- Hypothyroidism (HP:0000821, a Human Phenotype Ontology term): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 13/13. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:38714868)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925, a Human Phenotype Ontology term): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: PCS. Frequency: 95/95. (PMID:38714869;PMID:38714868)
- 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:38714868)
- Multinodular goiter (HP:0005987, a Human Phenotype Ontology term): Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. Evidence: PCS. Frequency: 3/13. (PMID:38714868)
These phenotypes are associated with the disease congenital nongoitrous hypothyroidism 3 (OMIM:609893, an entry in Online Mendelian Inheritance in Man).