THG1L-related disorder is characterized by ataxia, motor developmental delays, and cerebellar vermis hypoplasia. Many individuals have normal/ near normal intelligence. More severe features have also been reported, which include intractable epilepsy, microcephaly, profound intellectual disability, and brain atrophy and cerebellar hypoplasia.
THG1L-related disorder is rare and has been reported in less than 15 individuals in the medical literature. The condition is inherited in an autosomal recessive pattern. Genotype-phenotype correlation has been described.
THG1L