Before revision: Spinal and bulbar muscular atrophy; muscle cramps and progressive weakness Lesch–Nyhan syndrome; neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation, and uric acid overproduction (hyperuricemia) Lowe syndrome; hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets Menkes disease; sparse and coarse hair, growth failure, and deterioration of the nervous system Nasodigitoacoustic syndrome; misshaped nose, brachydactyly of the distal phalanges, sensorineural deafness Nonsyndromic deafness; hearing loss Norrie disease; cataracts, leukocoria along with other developmental issues in the eye Occipital horn syndrome; deformations in the skeleton Ocular albinism; lack of pigmentation in the eye Ornithine transcarbamylase deficiency; developmental delay and intellectual disability.
After revision: Lesch–Nyhan syndrome; neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation, and uric acid overproduction (hyperuricemia) Lowe syndrome; hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets Menkes disease; sparse and coarse hair, growth failure, and deterioration of the nervous system Nasodigitoacoustic syndrome; misshaped nose, brachydactyly of the distal phalanges, sensorineural deafness Nonsyndromic deafness; hearing loss Norrie disease; cataracts, leukocoria along with other developmental issues in the eye Occipital horn syndrome; deformations in the skeleton Ocular albinism; lack of pigmentation in the eye Ornithine transcarbamylase deficiency; developmental delay and intellectual disability.