| Disease ID | Source | Name | Description |
| 618381 | OMIM | Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome (FHEIG) | An autosomal dominant syndrome characterized by delayed motor and intellectual development, poor speech, seizures, generalized hypertrichosis and facial dysmorphic features, including hypotonic facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy eyebrows and long eyelashes, low-set ears, short deep philtrum, gingival overgrowth, prominent upper and lower vermilion, and everted upper lip. The disease is caused by variants affecting the gene represented in this entry. |