Global Variome shared LOVD

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Phenotype #0000310045 Individual ID 00418750 Associated disease JBTS Phenotype details molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: present, abnormal electroretinogram; coloboma: absent, large left optic disc; kidney disease: echogenic kidneys on ultrasound; liver fibrosis: mildly increased liver echogenicity and mildly enlarged spleen on ultrasound, mildly elevated gamma-glutamyl transpeptidase; polydactyly: bilateral postaxial; other: critical aortic stenosis, bicuspid aortic valve, atrial septal defect, left 3rd nerve palsy, strabismus, left ptosis, vertical tali Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 4y (4 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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