Phenotype #0000309695

Individual ID 00418326
Associated disease SLSN7
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite Senior-Loken syndrome (SLSN
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 14y; retinal degeneration at age: age unknown; other: brain: arachnoid cyst, mild mental retardation
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-28 11:51:17 +02:00 (CEST)
Date last edited N/A

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