In the present study, P116 with developmental abnormality, microcephaly, brittle hair, ichthyosis, spastic quadriplegia, and hypomyelination was found with c.2164C>T (p.R722W) and c.1808_1809del (p.K603Sfs*45) mutations in ERCC2. c.2164C>T (p.R722W) was reported in a boy with trichothiodystrophy in a 2011 study[26]. The gene discussed is ERCC2; the disease is trichothiodystrophy.