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GENATLAS PHENOTYPE
last update : 09-01-2010
Symbol MORM
Location 9q34.3
Name MORM syndrome
Corresponding gene INPP5E
Main clinical features
  • moderate mental retardation, truncal obesity, congenital non progressive retinal dystrophy and micropenis in males
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Remark(s) a single unreported change, c.1879C>T in the terminal exon of INPP5E, predicted to cause premature truncation of the protein with the omission of the terminal 18 amino acids and thus causes loss of the C-terminal CaaX domain (Jacoby 2009)