Neurofibromatosis
At a minimum, these SNPs are known to be related, and others may also be
Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin. Scientists have classified NF into two distinct types: neurofibromatosis type 1 (based on mutations in the NF1 gene) and type 2 (based on mutations in the NF2 gene). NF1, formerly known as von Recklinghausen's NF, is the more common of the types. It occurs in approximately 1 in 4,000 births. NF2, also referred to as bilateral acoustic NF, central NF or vestibular NF, occurs less frequently- 1 in 40,000 births. Occurrences of NF1 and NF2 are present among all racial groups and affect both sexes equally. The tumors arise from changes in the nerve cells and skin cells. Tumors also may press on the body's vital areas as their size increases. NF may lead to developmental abnormalities and/or increased chances of having learning disabilities.[1]