Global Variome shared LOVD

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Phenotype #0000234852 Individual ID 00309532 Associated disease JBTS Phenotype details see paper; ..., developmental disability; tachypnea; no polydactyly; ptosis; no seizures; Dandy Walker malformation; ventriculo- and cysto-peritoneal shunts; non-ambulatory; 8y-no speech Diagnosis/Initial Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite JBTS30 Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-28 16:43:54 +02:00 (CEST) Date last edited N/A

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