Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

To date, only two families with variants in the IQSEC1 gene associated with intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) have been described. Here, we report an 8-year-old boy with short stature, speech delay, dysmorphic facial features, hypotonia, and behavioral disorders, as well as corpus callosum dysgenesis associated with compound heterozygous variants Pro1095ArgfsTer97 and Thr485Met in the IQSEC1 gene. To our knowledge this is the first report of brain anomalies associated with IQSEC1 variants, highlighting the need for MRI in affected patients.