Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits (SCA42ND)

Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits, also known as sca42nd, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and spinocerebellar ataxia 42. An important gene associated with Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits is CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are intellectual disability and ataxia