Global Variome shared LOVD

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

Phenotype #0000281620 Individual ID 00388025 Associated disease - Phenotype details Hypotonia/ataxia, developmental delay/mental retardation, coloboma, retinitis pigmentosa, polycystic kidney congenital biliary, dilatation, hepatic ?brosis Diagnosis/Initial Joubert syndrome (JBTS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-11-02 00:52:48 +01:00 (CET) Date last edited N/A

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