Amish, Mennonite, and Hutterite
Genetic Disorder Database

Senior-Loken Syndrome 1

Disorder
OMIM #: #266900  (Click to access OMIM database)
Disorder: Senior-Loken Syndrome 1 
Also known as: SLSN1, SENIOR-LOKEN SYNDROME, LOKEN-SENIOR SYNDROME, RENAL-RETINAL SYNDROME, JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS, RENAL DYSPLASIA AND RETINAL APLASIA 
Clinical
Phenotype: renal insufficiency, weakness, lethargy, polyuria, polydipsia, eventually renal failure;proteinuria, anemia, congenital amaurosis, retinitis pigmentosa, diabetes insipidus 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: NPHP1
Base Change:
Amino Acid Change:
Last updated: 2018-12-14 

References
Schimke RN. (1969) Hereditary renal-retinal dysplasia. Ann Intern Med 70(4): 735-744.
PubMed ID: 5771531 

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