Global Variome shared LOVD

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

Phenotype #0000268984 Individual ID 00373761 Associated disease - Phenotype details ESRD (15y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign Diagnosis/Initial Joubert Syndrome / Nephronophthisis Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Julia Lopez Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-05-19 21:57:41 +02:00 (CEST) Date last edited N/A

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