Phenotypes associated with the disease Genetic transient congenital hypothyroidism (ORPHA:226316):
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226316)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226316)
- Thyroid defect in oxidation and organification of iodide (HP:0008263). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226316)
- Elevated circulating thyroglobulin concentration (HP:0025484): The concentration of thyroglobulin in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226316)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226316)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Mottled pigmentation (HP:0001070): Patchy and irregular skin pigmentation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Hoarse cry (HP:0001615). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Maternal autoimmune disease (HP:0011437): A medical history of a fetus or child born to a mother with an autoimmune disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Postterm pregnancy (HP:0031169): A pregnancy that extends to 42 weeks of gestation or beyond. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Abnormal radioactive iodine uptake test result (HP:0031221): Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226316)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:226316)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:226316)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:226316)
- Thyroid hypoplasia (HP:0005990): Developmental hypoplasia of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:226316)