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.
XLID105 diagnostic requires a genetic test result of a missense or nonsense variant in the USP27X gene and the presence of any of the mentioned clinical features.
USP27X