Global Variome shared LOVD

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Phenotype #0000310043 Individual ID 00418748 Associated disease JBTS Phenotype details molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: absent; coloboma: absent; kidney disease: absent; liver fibrosis: absent; polydactyly: absent; other: strabismus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 6y (6 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 2022-10-05 11:34:13 +02:00 (CEST) Date last edited N/A

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