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  1. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... be associated with SLS (OMIM PS266900 ). 3. Differential Diagnosis of Nephronophthisis-Related Ciliopathies Tubulointerstitial kidney diseases, cystic kidney diseases, ...
  2. 17q12 Recurrent Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK401562
    ... for other genes associated with this phenotype, see Nephronophthisis . The differential diagnosis of kidney cysts also includes, in children: idiopathic ...
  3. Nephronophthisis: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/nephronophthisis
    ... which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, ...
  5. Autosomal Recessive Polycystic Kidney Disease – PKHD1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1326
    ... 20 genes are known to be associated with nephronophthisis (NPH); the NPH-related genes of primary interest in the differential diagnosis of ARPKD- PKHD1 are NPHP2 , NPHP3 , and TMEM67 . ...
  6. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... partial function causing JS with hepatic disease or nephronophthisis and liver fibrosis in the absence of the molar tooth sign and other neurologic symptoms [ Otto et al 2009 , Doherty et al 2010 ]. ...
  7. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... Every 6 mos beginning at age 1 yr Nephronophthisis Osmolarity testing in AM ... Hepatic fibrosis Measurement of transaminases & synthetic liver function ...
  8. NPHP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nphp1
    ... NPHP1 gene mutations develop the additional signs and symptoms of Senior-Løken syndrome or Joubert syndrome. Other Names for This Gene JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 nephronophthisis 1 (juvenile) NPH1 ...
  9. Joubert syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/joubert-syndrome
    ... eye), kidney disease (including polycystic kidney disease and ... once characterized several separate disorders. Together, those disorders ...
  10. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... later develop other systemic issues, particularly kidney disease. ... can help identify individuals who require systemic investigations. ...
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