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Pedigree showing the two affected sisters (II-1 and II-2) and the unaffected consanguineous parents of Sri Lankan descent. Accompanying chromatograms demonstrate the homozygous CSTB c.218dupT (p.His75Serfs*2) variant in the two sisters (reference transcript: NM_000100.3). The mother (I-2) is heterozygous for the variant. The father was not available to be tested.
