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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-01-2019
Symbol NPHP21
Location 3p14.1
Name nephronophthisis 12
Corresponding gene ADAMTS9
Main clinical features
  • end-stage renal disease (ESRD) from NPHP and phenotypes characteristic of Joubert syndrome
  • corpus callosum hypoplasia and aplasia of the vermis, proteinuria, deafness, atrial septal defects, coloboma, and short stature
  • Genetic determination autosomal recessive
    Related entries including JBTS36
    Function/system disorder kidney and urinary tract
    mental retardation
    Type disease
    Remark(s) . loss of ADAMTS9 results in defects in primary cilia (PMID: 30609407))