Defects in TTDN1 are a cause of nonphotosensitive trichothiodystrophy (TTD), also known as Amish brittle hair brain syndrome (ABHS), hair-brain syndrome and BIDS syndrome. TTD is an autosomal recessive disorder characterized by short stature, intellectual impairment, sulfur deficient brittle hair and decreased male fertility, but not cutaneous photosensitivity.
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