Families

SLITRK3-associated disease is a rare neurodevelopmental disorder primarily affecting the central nervous system. The onset is typically in infancy or early childhood, with features of developmental delay, seizures, and impaired neurodevelopment.

In the published cohort, three unrelated families were reported with biallelic homozygous and monoallelic de novo SLITRK3 variants, manifesting with epileptic encephalopathy, microcephaly, global developmental delay, and intellectual disability.

SLITRK3mutations are rare; as of now only a few patients have been documented, so the prevalence is unknown.

The mode of inheritance may be autosomal recessive in cases of biallelic mutations, but de novomonoallelic variants have also been observed, suggesting that haploinsufficiency or dominant negative effects may also contribute.