Defects in the ADGRG6 gene can cause a lethal condition during pregnancy or in the newborn. The disease is recessive, so an affected baby would need to have two defective ADGRG6 genes. If the parents each carry a defective copy, then there is a 1 in 4 chance (25%) that a future pregnancy would also have two defective copies of the gene and develop the disease.
ADGRG6 is very important for the proper development and function of the nerves that carry the information from the brain to the body, including the muscles.
The disease is diagnosed during routine ultrasounds in pregnancy – the babies are less active in the womb (because their muscles are not receiving the right signals) and their limbs can also seem stiff and may appear not to move (this is called limb contractures). It has been detected as early as 18 weeks gestation.