PIEZO2 is associated with autosomal dominant and autosomal recessive distal arthrogryposis (OMIM#114300,108145,617146), HERC1 variants have been linked to autosomal recessive Macrocephaly, dysmorphic facies, and psychomotor retardation (OMIM#617011), and WDR4 is associated with autosomal recessive Galloway-Mowat syndrome 6 (OMIM#618347) as well as an autosomal recessive syndrome of microcephaly, growth deficiency, seizures, and brain malformations (OMIM#618346). The gene discussed is WDR4; the disease is cerebral malformation.