Perinatal. Referring to the period of time surrounding an infant's birth, from the last two months of pregnancy to the first 28 days of life. The TORCH panel tests for perinatal infections.
1 CMT1 is commonly caused by a duplication of a gene on chromosome 17. This gene controls the production of your nervesâ protective myelin sheath. CMT1 is also caused by other gene defects.  CMT2 results from a defect in your peripheral nerve cellsâ axon. This is caused by a defect in your mitofusin 2 gene.
lactose intolerance-caused by mutations in the LCT gene. At least nine LCT gene mutations cause congenital lactase deficiency, also called congenital alactasia. In this disorder, infants are unable to break down lactose (lactose intolerance) in breast milk or formula.The LCT gene mutations change single protein building blocks (amino acids) in the lactase enzyme or result in an enzyme that is abnormally short.he mutations are believed to interfere with the function of the lactase enzyme, leading to undigested lactose in the small intestine and causing severe diarrhea. Lactose intolerance in adulthood is caused by gradually decreasing activity (expression) of the LCT gene after infancy, which occurs in most humans.