Abstract
Homozygous missense variants in the tRNA-histidine guanylyltransferase 1 like (THG1L) gene have been reported in individuals presenting with global developmental delay, intellectual disability, ataxia and cerebellar atrophy. The THG1L gene encodes a mitochondrial protein where the function is not well understood. Here we present a homozygous variant of uncertain significance, c.164T>C, p.(Val55Ala), in the THG1L gene in a male child presenting with global developmental delays, ataxia and cerebellar atrophy.
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