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1. Argininosuccinic aciduria

2. Kinky hair, photosensitivity, and mental retardation

3. Menkes disease (pili torti, trichorrhexis nodosa, monilethrix)

4. Pili torti: isolated, MIM 261900

5. Pili torti with deafness or with dental enamel hypoplasia MIM 262000 (Björnstad syndrome (complex 3))

6. Trichothiodystrophy: trichorrhexis nodosa, ichthyosis, and neurological abnormalities (Pollit syndrome) MIM 27550