ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman

Variants in ZMIZ1 can cause a syndromic neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies. Here we report a woman with a de novo ZMIZ1 c.899C>T (p.Thr300Met) variant, low average IQ, high myopia, craniofacial dysmorphisms, genitourinary anomalies, cardiac defects, lower limb deformities, and chronic pain. She died unexpectedly at 52 years of age. Additional findings seen on autopsy included cerebral cortical neuronal heterotopias. Our report illustrates that individuals with ZMIZ1-associated neurodevelopmental disorder can lead long, active, and fulfilling lives.