Based on these observations, we analysed the four genes: LIM2, PAX6, PITX3 and HSF4 in four consanguineous unrelated Tunisian families with ARCC associated with mental retardation (MR) for two patients belonging to the same family and ARCC associated to MR and microcephaly for the others from the four studied families. Here, LIM2 is linked to microcephaly.