Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 17-11-2020
Symbol MRX61
Location Xq13.2
HGNC id 7295
Name mental retardation, 61
Other name(s) Tonne-Kalscheuer syndrome (TOKAS)
Corresponding gene RLIM
Other symbol(s) TOKAS
Main clinical features
  • delayed psychomotor development, mild to moderate intellectual disability with poor speech, and autistic features
  • mild dysmorphic features included broad forehead, fine hair with receding hairline, hypertelorism, broad nasal bridge, and large nose
  • additional features included stiff gait and feeding difficulties
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease
    Remark(s)
  • same as ISSX, but not proved to be linked to ARX