This website provides information on patients with mutations in the USP27X gene, including clinical data, molecular data, management and research options.

X-linked intellectual disorder 105 (XLID105) is caused by mutations in the USP27X gene. XLID105 is a disorder characterized by Intellectual disability, speech delay, autism spectrum disorder, attention deficit and hyperactivity, anxiety, behavioral or social-emotional problems. Individuals with XLID105 can also have motor delay, febrile seizures, epilepsy, myopia, hypermetropia, strabismus and astigmatism. Most individuals with XLID105 may have microcephaly, non-specific dysmorphic features and cupped/protruding ears and an elongated face with pointed chin.

Not all individuals with a mutation in the USP27X gene have these features but they may have one or more of them combined.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the USP27X gene.

Francisco Bustos, PhD, Sanford Research, Sioux Falls, SD, USA, Francisco.Bustos@sanfordhealth.org