| Disease ID | Source | Name | Description |
| 616541 | OMIM | Short stature, microcephaly, and endocrine dysfunction (SSMED) | A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia. The disease is caused by variants affecting the gene represented in this entry. |