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Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in  SZT2  were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three children having non-syndromic mild or moderate ID without seizures. Whole-exome sequencing of three affected siblings revealed a three base pair deletion (c.4202_4204delTTC) located in a 19 mb autozygous region on chromosome 1, leading to an amino acid deletion (p.Phe1401del) in  SZT2 . All three children were homozygous for the deletion and their parents were heterozygous as expected in autosomal recessive inheritance.  SZT2  is highly expressed in neuronal tissues and regulates seizure threshold and neuronal excitation in mice. We conclude that the disruption of  SZT2  with some residual function might lead to mild or moderate ID without seizures.

An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability