Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism

We describe 17 subjects with bi-allelic WDHD1 variants and a clinical spectrum ranging from early fetal lethality to microcephalic primordial dwarfism without developmental delay. Subject-derived fibroblasts showed impaired cell proliferation, delayed cell cycle progression, reduced DNA replication speed, increased DNA damage, premature sister chromatid separation, and abnormal nuclear morphology.