Global Variome shared LOVD

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Phenotype #0000242946 Individual ID 00324404 Associated disease ? Diagnosis/Initial developmental delay/intellectual disability Diagnosis/Definite - Phenotype details see paper; ..., OFC 57.5cm (99th); autism spectrum disorder/autistic features; no attention-deficit/hyperactivity; developmental delay/intellectual disability; seizures; no dysmorphic features; MRI multiple punctate foci of T2 hyperintensity within subcortical white matter; normal muscle tone, normal deep tendon reflexes, no dyskinesia; no ataxia; ALL, diastasis recti, mild telangiectasia Inheritance Isolated (sporadic) Age/Examination 16y (16 years) 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 2020-12-11 16:01:59 +01:00 (CET) Date last edited N/A

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