photosensitive trichothiodystrophy 2

A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.

Signs and symptoms

• Cutaneous photosensitivity
• Ichthyosis
• Coarse hair
• Tiger tail banding
• Congenital nonbullous ichthyosiform erythroderma
• Short stature
• Agenesis of maxillary lateral incisor
• Intellectual disability

Also known as: TTD2