Article
Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.
American journal of medical genetics. Part A - 1 Jul 2026
Kashevarova A A, Minaycheva L I, Fonova E A, Vasilyeva O Yu, Zarubin A A, Ravzhaeva E G, Petlina E Yu, Sukhanova N N, Zuev A S, Yamin V A, Seitova G N, Lebedev I N
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.