Phenotypes associated with the disease Congenital hypothyroidism due to maternal intake of antithyroid drugs (ORPHA:226313):
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:226313)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:226313)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:226313)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:226313)
- 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: Very frequent (HP:0040281). (ORPHA:226313)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Mottled pigmentation (HP:0001070): Patchy and irregular skin pigmentation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Large for gestational age (HP:0001520): The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- 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: Frequent (HP:0040282). (ORPHA:226313)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- 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: Frequent (HP:0040282). (ORPHA:226313)
- Absent ossification of capital femoral epiphysis (HP:0008820): Lack of ossification of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Moon facies (HP:0500011): A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:226313)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226313)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226313)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226313)
- Large posterior fontanelle (HP:0004491): An enlargement of the posterior fontanelle relative to age-dependent norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:226313)