Global Variome shared LOVD

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Phenotype #0000221949 Individual ID 00288212 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details abnormal EEG, abnormal posturing, absent reflex, absent speech, achalasia, anemia, astigmatism, atopic dermatitis, autistic behavior, brain bleeding, bruising susceptibility, bruxism, developmental delay, developmental regression, dystonia, enlarged tonsils, facial grimacing, feeding difficulties, hand clenching, head bobbing, head drop, hyperhidrosis, hypotonia, increased ast, increased CK, intellectual disability, involuntary movements, joint laxity, kyphoscoliosis, memory impairment, myopia, poor coordination, recurrent infections, scoliosis, sensory impairment, staring gaze, tremor Inheritance Isolated (sporadic) Age/Examination 6y (6 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 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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