| Disease ID | Source | Name | Description |
| 301900 | OMIM | Boerjeson-Forssman-Lehmann syndrome (BFLS) | An X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. The disease is caused by variants affecting the gene represented in this entry. |