Global Variome shared LOVD

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Phenotype #0000300890 Individual ID 00408775 Associated disease JBTS Phenotype details oculomotor apraxia, nystagmus, Leber congenital amaurosis, strabismus, vision 0.2, respiratory anomalies: episodic hyperpnea/ apnea, kidney anomalies: none, liver anomalies: none; molar tooth sign; other radiological anomalies: dysplasia of cerebellar cortex mildly dilated ventricular system; other anomalies Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination - 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 2022-04-27 16:30:10 +02:00 (CEST) Date last edited N/A

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