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GENATLAS PHENOTYPE
last update : 25-02-2016
Symbol MRXS99F
Location Xp11.4
Name mental retardation, X-linked 99, syndromic, female-restricted
Corresponding gene USP9X
Main clinical features
  • de novo mutations causing intellectual disability specifically in females
  • characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities
  • also hearing loss and (Blaschko) pigment abnormality
    • Genetic determination sex linked
    Function/system disorder mental retardation
    neurology
    osteo-articular
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function loss-of-function mutations could be lethal in males
    Remark(s)