Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000143212 Individual ID 00180941 Associated disease COQ10D6 Phenotype details steroid resistant nephrotic syndrome, end stage renal disease, sensorineural deafness Diagnosis/Initial steroid resistant nephrotic syndrom Inheritance Familial, autosomal recessive Diagnosis/Definite COQ10D-6 Age/Examination 09y (9 years) Age/Diagnosis 09y Age/Onset 07y Phenotype/Onset 7y Protein - Owner name Güven Toksoy Database submission license No license selected Created by Güven Toksoy Date created 2018-09-14 10:05:48 +02:00 (CEST) Date last edited 2018-09-14 11:59:16 +02:00 (CEST)

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