| Disease ID | Source | Name | Description |
| 117550 | OMIM | Sotos syndrome 1 (SOTOS1) | A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. The disease is caused by variants affecting the gene represented in this entry. |
| 130650 | OMIM | Beckwith-Wiedemann syndrome (BWS) | A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. The disease is caused by variants affecting the gene represented in this entry. |