The identified p.Glu309Lys (c.925G > A) variant in the L1CAM gene was previously described [19, 20], related to MASA (Mental retardation, Aphasia, Shuffling gait, Adducted thumbs) syndrome and is confirming genotype–phenotype correlation in which milder phenotypes are related to the missense mutation in the extracellular domain of the L1CAM gene. Here, L1CAM is linked to adducted thumbs-arthrogryposis syndrome, Christian type.