MedGen

Seckel syndrome-8 (SCKL8) is characterized by severe microcephaly and markedly reduced height. Some patients have bird-like facies and exhibit developmental delays (Shaheen et al., 2014; Tarnauskaite et al., 2019). For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). [from OMIM]

Autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by Ronchi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). [from OMIM]