Global Variome shared LOVD

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Phenotype #0000310074 Individual ID 00418777 Associated disease JBTS4 Phenotype details nephronophthisis: absent; no retinal dystrophy; oculomotor apraxia: present; molar tooth sign: not examined; developmental delay Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 8y (8 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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