UBE2A-related X-linked intellectual disability

Clin Dysmorphol. 2019 Jan;28(1):1-6. doi: 10.1097/MCD.0000000000000242.


UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the previously reported 17 males in eight families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult-onset ataxia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Genes, X-Linked*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Mutation / genetics
  • Pedigree
  • Pregnancy
  • Ubiquitin-Conjugating Enzymes / genetics*
  • Young Adult


  • UBE2A protein, human
  • Ubiquitin-Conjugating Enzymes