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GENATLAS PHENOTYPE
last update : 25-08-2017
Symbol MKS13
Location 17p13.1
Name Meckel syndrome 13
Corresponding gene TMEM107
Main clinical features
  • cystic renal disease, a central nervous system malformation, most commonly occipital encephalocele, and polydactyly, most often postaxial, and also fibrotic changes to the liver
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    neurology
    osteo-articular
    Type disease
    Remark(s)