Disease ID | Source | Name | Description |
616777 | OMIM | Seckel syndrome 9 (SCKL9) | A form of Seckel syndrome, 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. |