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GENATLAS PHENOTYPE
last update : 29-01-2019
Symbol MRSRBD
Location 7q36.3
Name mental retardation syndromic with renal, brain and digit anomalies
Corresponding gene NCAPG2
Main clinical features
  • renal defects with hydronephrosis, or renal cysts, brain and ocular defects, dilated cerebral ventricles, cerebellar malformation, developmental delay, polydactyly, short stature
  • also associated with hearing loss, scoliosis, microcephaly
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    eye
    Type disease
    Remark(s)