Abstract
Ververi-Brady syndrome (VBS, OMIM #617982) is a rare cause of neurodevelopmental disorder. It is characterized by developmental delay, intellectual disability, speech delay, learning difficulties, behavioral issues, dysmorphic characteristics (prominent nose, smooth philtrum, large ears and thin upper lip), microcephaly, short stature and neurological features. In early childhood, elevation of creatin kinase is noted. VBS results from heterozygous loss-of-function variants in QRICH1 gene. QRICH1 gene controls endoplasmic reticulum (ER) stress, maintains proteostasis and keeps tissue homeostasis.
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