Global Variome shared LOVD

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Phenotype #0000288791 Individual ID 00395593 Associated disease - Phenotype details astigmatism, optic nerve coloboma, nystagmus, unilateral strabismus, bilateral sensorineural hearing impairment, recurrent otitis media, abnormality of the cerebellar peduncle, agenesis of cerebelar vermis, delayed myelination, molar tooth sign on mri, global developmental delay, generalized hypotonia Diagnosis/Initial Joubert syndrome Inheritance Isolated (sporadic) Diagnosis/Definite - 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 2021-12-08 14:12:08 +01:00 (CET) Date last edited N/A

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