Chromosome 8 Location on Chromosome 8 (q22.1)<unk>  syndrome is under the class of contiguous gene syndromes, which result from a deletion mutation that affects a number of genes located in close proximity on a chromosome. The mutation for<unk>  syndrome is a microdeletion mutation in the long arm of chromosome 8 (8q22.1). The specific genomic coordinates for this mutation are (GFCh38): 8:92,300,000-97,900,000, which span approximately 5.6 million base pairs. Its inheritance pattern is thought to be autosomal dominant, but this has not been confirmed due to the rareness of the disease. The microdeletion at 8q22.1 has been observed in at least one patient who did not show the clinical features of the<unk>  syndrome, which indicates a spectra of phenotypes (see Signs and Symptoms), dependent on the particular genes affected by the microdeletion in the 8:92,300,000-97,900,000 region of chromosome 8.
Nablus mask-like facial syndrome
Atypical facial pain
Pellagra
Onychotillomania
Acro–dermato–ungual–lacrimal–tooth syndrome
Mongolian idiocy
Vitreous touch syndrome
Oral galvanism