Global Variome shared LOVD

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Phenotype #0000307824 Individual ID 00416058 Associated disease ? Diagnosis/Initial possible Joubert syndrome Diagnosis/Definite - Phenotype details infantile hypotonia; normal breathing; 6m; 14m-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced Inheritance Isolated (sporadic) Age/Examination 05y-10y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-22 15:57:28 +02:00 (CEST) Date last edited N/A

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