- Elevated circulating thyroglobulin concentration (HP:0025484): The concentration of thyroglobulin in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:2510172)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 2/2. (PMID:2510172)
- Increased circulating free T4 concentration (HP:0033077): An elevated concentration of free thyroxine (fT4) in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:2510172)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:2510172)
- Increased circulating free T3 (HP:0011788): An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. Evidence: TAS. Frequency: 2/2. (OMIM:188570)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: PCS. Frequency: 1/2. (PMID:2510172)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: PCS. Frequency: 2/2. (PMID:2510172)
- Autosomal dominant inheritance (HP:0000006): 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:2510172)
- Impaired sensitivity to thyroid hormone (HP:0002930): Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone. Evidence: PCS. Frequency: 2/2. (PMID:2510172)
These phenotypes are associated with the disease thyroid hormone resistance, generalized, autosomal dominant (OMIM:188570).