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  1. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Search term GeneReviews Advanced Search Help < Prev Next > Nephronophthisis-Related Ciliopathies Synonym: NPHP-RC Marijn Stokman , MD, ... and their family members. 1. Clinical Characteristics of Nephronophthisis-Related Ciliopathies Nephronophthisis (NPH) is characterized by polyuria ...
  2. Nephronophthisis: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/nephronophthisis
    ... symptoms. Learn more about the genes associated with Nephronophthisis NPHP1 WDR19 Additional Information from NCBI Gene: ANKS6 ...
  3. NPHP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nphp1
    ... cilia function. Health Conditions Related to Genetic Changes Nephronophthisis At least 23 mutations in the NPHP1 gene ... been found to cause a kidney disorder called nephronophthisis type 1. Type 1 is the most common ...
  4. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... skin, hair, nails, & teeth Dental anomalies Dental eval Nephronophthisis Urinalysis (first AM void) (& optional 24-hour urine ... or oligodontia may limit aesthetic, functional, & psychological issues. Nephronophthisis Treatment per nephrologist Renal transplantation is an option ...
  5. WDR19 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/wdr19
    ... Asphyxiating thoracic dystrophy More About This Health Condition Nephronophthisis MedlinePlus Genetics provides information about Nephronophthisis More About ...
  6. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... for polydactyly and symptomatic ptosis and/or strabismus. Nephronophthisis, end-stage kidney disease, liver failure and/or ... 2012 ] 21. May be higher in individuals with nephronophthisis 22. Homozygous deletions have been associated with rare ...
  7. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and ... eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as the presence ...
  8. Senior-Løken syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome
    ... of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis . Nephronophthisis causes fluid-filled cysts to develop in the ...
  9. 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. Nephronophthisis with subsequent end-stage kidney disease can be ... abnormalities Characteristic MRI appearance incl "molar tooth sign" Nephronophthisis in later childhood Zellweger spectrum disorder 13 genes ...
  10. 17q12 Recurrent Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK401562
    ... IQCB1 NPHP1 NPHP3 NPHP4 TMEM67 (≥19 genes) 6 Nephronophthisis AR Corticomedullary cysts; normal or small-sized kidneys ( ... type); urinary concentrating & sodium reabsorption defect; progressive CKD Nephronophthisis may be isolated or part of a syndrome, ...
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