Disease ID | Source | Name | Description |
136140 | OMIM | Floating-Harbor syndrome (FLHS) | A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. The disease is caused by variants affecting the gene represented in this entry. |