However, it was noted that this individual also had short stature, microcephaly, renal problems due to recurrent glomerulonephritis, and episodic muscle pain with elevated serum creatine kinase (CK) levels.1 In addition, other studies have linked pathogenic missense POC5 variants to idiopathic scoliosis,7,8 through disturbance of the ciliary and centrosomal role of this protein.9 This suggests a more pleiotropic effect of POC5 variants on other organ systems beyond ocular manifestations. Here, POC5 is linked to microcephaly.