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We describe siblings with biallelic <jats:italic>ERCC6<\/jats:italic> mutations (NM_000124.2:c. [543\u2009+\u20094delA];[2008C\u2009&gt;\u2009T]) and brain hypomyelination, microcephaly, cognitive decline, and skill regression but without photosensitivity or progeria. DNA repair assays on cultured skin fibroblasts confirmed a defect of transcription\u2010coupled nucleotide excision repair and increased ultraviolet light sensitivity. 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