KIF4A-related disease is a kinesinopathy caused by pathogenic variants in the KIF4A gene, presenting with recurrent but variable phenotypes including neurodevelopmental differences and congenital anomalies. The severity ranges from a prenatal (lethal) malformation phenotype to a non- syndromic neurodevelopmental disorder. The inheritance is X-linked recessive. It is a rare condition, the prevalence is currently unknown.
KIF4A