Global Variome shared LOVD

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Phenotype #0000230503 Individual ID 00301344 Associated disease ? Diagnosis/Initial epileptic encephalopathy Diagnosis/Definite DEE97 Phenotype details never eye-tracking, never social smile; no speech, no two-word sentences; 2y-stable head and neck, 20m-rolling over, 3y-crawled; 2y-sitting alone, 4y-walked; intellectual disability; autistic features; 2.5m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; no motor/neurological findings; no involuntary movement; no skeletal anomalies; myopia; MRI brain normal Inheritance Isolated (sporadic) Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 00y02m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Toshiyuki Itai Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Toshiyuki Itai Date created 2020-06-12 13:23:09 +02:00 (CEST) Date last edited 2022-04-07 10:01:51 +02:00 (CEST)

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