Here, we report a unique case of a child with neuro‐ichthyosis presenting with pharmacoresistant epilepsy, severe developmental delay, and ichthyosis, in whom whole exome sequencing revealed multilocus pathogenic variants including CC2D2A, ABCA12, DOCK6, and a 14q31.3–q32.11 deletion. This evidence concerns the gene ABCA12 and Global developmental delay.