This syndrome is caused by pathogenic variants (mutations) in the VPS13B gene at chromosomal locus 8q22. It has an autosomal recessive transmission with variable expression. Variants in VSP13B also cause Mirhosseini–Holmes–Walton syndrome, which his now considered to be the same entity as<unk>
Cohen syndrome
Gleich's syndrome
Cohen-Gibson syndrome
Catel–Manzke syndrome
Kenny-Caffey syndrome
De Barsy syndrome
Shapiro syndrome
Galloway Mowat syndrome