PLK4 and Severe short stature: PLK4 PM: Autosomal recessive microcephaly due to biallelic PLK4 variants characterized by (i) chorioretinopathy with pale optic discs, thin retinal vessels, bilateral macular atrophy, and severe generalized retinopathy, but also microphthalmia, microcornea, or cataract, and (ii) dwarfism [46] similar to Seckel syndrome [48].