Variant: rs587777068 

    present in Gene: NALCN
    present in Chromosome: 13
    Position on Chromosome: 101081552
    Alleles of this Variant: C/A

rs587777068 in NALCN gene and HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 PMID 24075186 2013 Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

PMID 23749988 2013 Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.