- 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: TAS. Frequency: Obligate (HP:0040280). (ORPHA:424)
- Activating thyroid-stimulating hormone receptor defect (HP:0011790): Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:424)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:424)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:424)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:424)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:424)
- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:424)
- Thyroid hyperplasia (HP:0008249): Hyperplasia of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:424)
- Thyrotoxicosis with diffuse goiter (HP:0011784). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:424)
- Agitation (HP:0000713): A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:424)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:424)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:424)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:424)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:424)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:424)
These phenotypes are associated with the disease Familial hyperthyroidism due to mutations in TSH receptor (ORPHA:424).
The following phenotypes are NOT associated with this disease:
- Abnormal eye morphology (HP:0012372): A structural anomaly of the globe of the eye, or bulbus oculi. Evidence: TAS. (ORPHA:424)
- Autoimmune antibody positivity (HP:0030057): The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. Evidence: TAS. (ORPHA:424)