ATP1A2 and Abnormal facial shape: ATP1A2 is also associated with other autosomal dominant entities such as alternating hemiplegia of childhood 1 (AHC1, OMIM 104290), developmental and epileptic encephalopathy 98 (DEE98, OMIM 619605), and fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD, OMIM 619602).