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GENATLAS PHENOTYPE
last update : 16-09-2020
Symbol CAKUT4S
Location 13q12.11
Name congenital anomalies of the kidney and urinary tract-4, syndromic
Corresponding gene ZMYM2
Main clinical features
  • congenital anomalies of the kidney and urinary tract
  • affected individuals displayed extra-renal features: cardiac defects, facial dysmorphisms, small hands and feet with dysplastic/hypoplastic nails, clinodactyly, and neurological features, with developmental delay
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    cardiovascular
    neurology
    Type disease
    Remark(s)