Global Variome shared LOVD

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Phenotype #0000239729 Individual ID 00315984 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no failure to thrive; no globe defect; no coloboma; visual impairment; bilateral oblong optic nerves, ptosis; motor delay; no speech delay; no behavioral features; no hypotonia; cardiac defect; no kidney anomaly; Downslanting palpebral fissures Inheritance Isolated (sporadic) Age/Examination 00y15m (15 months) 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 2020-11-01 10:06:29 +01:00 (CET) Date last edited 2022-11-30 19:49:28 +01:00 (CET)

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