Disease ID | Source | Name | Description |
262700 | OMIM | Pituitary hormone deficiency, combined, 4 (CPHD4) | Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica. The disease is caused by variants affecting the gene represented in this entry. |