Global Variome shared LOVD

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Phenotype #0000321281 Individual ID 00430484 Associated disease JBTS24 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Developmental delay, dysmorphic facial features and polydactyly, retinal dystrophy, exotropia, abnormal pattern of respiration, and periventricular heterotopia Inheritance Isolated (sporadic) Age/Examination 08y (8 years) Age/Diagnosis 08y Age/Onset - Phenotype/Onset hiraide Owner name Takuya Hiraide Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Takuya Hiraide Date created 2023-01-20 13:49:53 +01:00 (CET) Date last edited 2023-01-21 09:28:41 +01:00 (CET)

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