A Novel Homozygous Frameshift Variant in the FLVCR1 Gene Is Associated With Prenatal Microcephaly, Multiple Brain Structural Anomalies, and Abnormal Foot Posture

We present a fetus in which, during the second trimester, ultrasound examination revealed multiple structural brain abnormalities and abnormal foot posture. Trio whole‐exome sequencing (trio‐WES) identified a novel homozygous frameshift variant in the FLVCR1 gene (NM_014053.4: c.1393_1402delCTTCTTAATGinsAC, p.Leu465fs). To our knowledge, prenatal reports on FLVCR1 gene variants associated with neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (NEDMISH) remain limited. This case expands the known prenatal phenotypic and genotypic spectrum associated with FLVCR1 gene variants.