Developmental delay and intellectual disability. Congenital (multiple) anomalies in a variable extent. Brain anomalies : hydrocephalus, hydranencephaly, ventriculomegaly (with aqueductal stenosis) head circumferences small to low normal or microcephaly, cerebellar hypoplasia, agenesis of the corpus callosum, hippocampal hypoplasia and malrotation, polymicrogyria, perinodular hyperplasia, and interhemispheric cysts. Other anomalies: anomalies of the kidney and urinary tract, such as cystic dyspplastic kidneys. Clinical overlap with anomalies described in other kinesinopathies and/or ciliopathies.
KIF4A