Global Variome shared LOVD

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Phenotype #0000310036 Individual ID 00418741 Associated disease JBTS Phenotype details central nervous system: hypotonia/ataxia: +; breathing abnormalities: -; developmental. delay: +; intellectual disability (variable severity): +; oculomotor abnormalities: ocular: +; retinopathy: -; coloboma: -; renal: -; hepatic: -; other features: polydactyly: -; orofacial features: -; dysmorphisms: +; neuroimaging: molar tooth sign: +; other central nervous system defects: - Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination 9y (9 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 09:48:43 +02:00 (CEST) Date last edited N/A

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