Global Variome shared LOVD

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Phenotype #0000310073 Individual ID 00418776 Associated disease JBTS4 Phenotype details nephronophthisis: present; age at end-stage renal disease: 10y; no retinal dystrophy; oculomotor apraxia: present; molar tooth sign: present (mild); developmental delay Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-10-06 14:02:35 +02:00 (CEST) Date last edited N/A

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