Phenotypes associated with the disease hypothyroidism, congenital, nongoitrous, 8 (OMIM:301033):
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. (OMIM:301033)
- Inappropriately normal thyroid-stimulating hormone level (HP:0033075): A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. Evidence: PCS. (PMID:27603907)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. (OMIM:301033)
- Decreased circulating free T4 concentration (HP:0033078): A reduced concentration of free thyroxine (fT4) in the blood circulation. Evidence: PCS. Frequency: 7/17. (PMID:27603907)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/8. (PMID:27603907)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:27603907)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. (OMIM:301033)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. (OMIM:301033)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. (OMIM:301033)
- Central hypothyroidism (HP:0011787): A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. Evidence: PCS. (PMID:27603907)
- Diminished ability to concentrate (HP:0031987): The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities. Evidence: TAS. (OMIM:301033)