- Elevated circulating thyroglobulin concentration (HP:0025484): The concentration of thyroglobulin in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
- 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: IEA. (OMIM:609152)
- Increased circulating T4 concentration (HP:0031506): An elevation above 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:7800007)
- Anti-thyroid peroxidase antibody positivity (HP:0025379): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. Evidence: PCS. Frequency: 0/1. (PMID:7800007)
- Pretibial myxedema (HP:0200028): A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. Evidence: PCS. Frequency: 0/1. (PMID:7800007)
- Increased circulating free T3 (HP:0011788): An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
- Anti-thyroglobulin antibody positivity (HP:0032069): The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. Evidence: PCS. Frequency: 0/1. (PMID:7800007)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:609152)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: PCS. Frequency: 11/11. (PMID:7920658;PMID:7800007)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. (OMIM:609152)
- Decreased thyroid-stimulating hormone level (HP:0031098): Reduced 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: 11/11. (PMID:7920658;PMID:7800007)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
- Accelerated skeletal maturation (HP:0005616): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:609152)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 0/1. (PMID:7800007)
- Thyroid hyperplasia (HP:0008249): Hyperplasia of the thyroid gland. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
- 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:7920658)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: PCS. Frequency: 11/11. (PMID:7920658;PMID:7800007)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 1/1. (PMID:7800007)
These phenotypes are associated with the disease familial hyperthyroidism due to mutations in TSH receptor (OMIM:609152).