Seckel Syndrome 8 (SCKL8)

Seckel Syndrome 8, also known as sckl8, is related to isolated growth hormone deficiency, type ia and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6. An important gene associated with Seckel Syndrome 8 is DNA2 (DNA Replication Helicase/Nuclease 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cell Cycle Checkpoints. Affiliated tissues include spinal cord and kidney, and related phenotypes are intellectual disability and global developmental delay