Two novel XK variants (c.970A>T, c.422_423del) were identified in three index MLS patients and six novel VPS13A variants (c.9219C>A, c.3467T>A, c.4208dup, c.9243_9246del, c.5364del, c.556‐290_697‐483del) in five index ChAc patients. The gene discussed is XK; the disease is Choreoacanthocytosis.