| Disease ID | Source | Name | Description |
| 251255 | OMIM | Jawad syndrome (JWDS) | A syndrome characterized by congenital microcephaly, moderately severe mental retardation, and symmetrical digital anomalies. Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly. The disease is caused by variants affecting the gene represented in this entry. |
| 606744 | OMIM | Seckel syndrome 2 (SCKL2) | A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. The disease is caused by variants affecting the gene represented in this entry. |