Global Variome shared LOVD

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Phenotype #0000242948 Individual ID 00324406 Associated disease ? Diagnosis/Initial developmental delay, seizure, ADHD Diagnosis/Definite - Phenotype details see paper; ..., OFC 54cm (90th); no autism spectrum disorder/autistic features; attention-deficit/hyperactivity; developmental delay/intellectual disability; seizures; no dysmorphic features; MRI brain normal; truncal hypotonia, normal deep tendon reflexes, normal gait, no ataxia; heart murmur, mild cutis marmorata telangiectasia Inheritance Isolated (sporadic) Age/Examination 9y (9 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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