TUBGCP4/6 PM: Autosomal recessive microcephaly characterized by (i) chorioretinopathy similar to cone-rod retinal dystrophy due to biallelic variants in TUBGCP6 [46] or (ii) chorioretinal dysplasia, with multiple punched-out retinal lesions, and other anomalies, e.g., microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, the absence of retinal vessels, and round areas of chorioretinal atrophy due to biallelic TUBGCP4 variants [47]. Here, TUBGCP4 is linked to microphthalmia.