Phenotypes associated with the disease hypothyroidism, congenital, nongoitrous, 2 (OMIM:218700):
- 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: IEA. (OMIM:218700)
- Elevated circulating thyroglobulin concentration (HP:0025484): The concentration of thyroglobulin in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:9590296)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/4. (PMID:9590296)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: IEA. (OMIM:218700)
- Stridor (HP:0010307): Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. Evidence: TAS. (OMIM:218700)
- 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: PCS. Frequency: 4/5. (PMID:9590296)
- 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: IEA. (OMIM:218700)
- Thyroid hypoplasia (HP:0005990): Developmental hypoplasia of the thyroid gland. Evidence: PCS. Frequency: 4/5. (PMID:9590296)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: IEA. (OMIM:218700)
- Thyroid agenesis (HP:0008191): The congenital absence of the thyroid gland. Evidence: PCS. Frequency: 1/5. (PMID:9590296)
- Ectopic thyroid (HP:0100028): Mislocalised thyroid gland. Evidence: IEA. (OMIM:218700)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:218700)
- 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: IEA. (OMIM:218700)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: IEA. (OMIM:218700)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: IEA. (OMIM:218700)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:218700)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: IEA. (OMIM:218700)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/4. (PMID:9590296)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/4. (PMID:9590296)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: IEA. (OMIM:218700)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed 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: IEA. (OMIM:218700)
- Large posterior fontanelle (HP:0004491): An enlargement of the posterior fontanelle relative to age-dependent norms. Evidence: IEA. (OMIM:218700)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: IEA. (OMIM:218700)
- 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: IEA. (OMIM:218700)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:9590296)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 5/5. (PMID:9590296)
- Hoarse cry (HP:0001615). Evidence: IEA. (OMIM:218700)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:218700)
- 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:9590296)