| Disease ID | Source | Name | Description |
| 301035 | OMIM | Hypothyroidism, congenital, non-goitrous, 9 (CHNG9) | A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG9 is a congenital, X-linked recessive form. Patients have a small thyroid gland with low free T4 levels and inappropriately normal levels of thyrotropin. The disease is caused by variants affecting the gene represented in this entry. |