Phenotypes associated with the disease thyroid dyshormonogenesis 1 (OMIM:274400):
- 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:274400)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:274400)
- 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:274400)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:274400)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: IEA. (OMIM:274400)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: IEA. (OMIM:274400)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:274400)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:274400)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: IEA. (OMIM:274400)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:274400)