De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

Shenzhao Lu, Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton, James A. Bartley, Xueying Wang, Jill A. Rosenfeld, Ana Beleza-Meireles, Jaynee Chauhan, Xueyang Pan, Megan Li, Pengfei Liu, Katrina Prescott, Sam Amin, George Davies, Michael F. Wangler, Yuwei Dai, Hugo J. Bellen

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)1932-1943
Number of pages12
JournalAmerican Journal of Human Genetics
Volume109
Issue number10
DOIs
StatePublished - Oct 6 2022

ASJC Scopus Subject Areas

  • Genetics
  • Genetics(clinical)

Keywords

  • CG5022
  • Drosophila
  • FRMD5
  • ataxia
  • dFrmd
  • developmental delay
  • intellectual disability
  • nystagmus
  • opsoclonus
  • seizures

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