Global Variome shared LOVD

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Phenotype #0000230505 Individual ID 00301346 Associated disease ? Diagnosis/Initial - Diagnosis/Definite DEE97 Phenotype details 16m-eye-tracking; no speech, no two-word sentences; 16m-stable head and neck, 2y-rolling over, 3y-crawled; never sitting alone, never walked; intellectual disability; autistic features; 4m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; hypotonia; no involuntary movement; no skeletal anomalies; visual perceptual disorder; elevated lactate; MRI brain abnormal Inheritance Isolated (sporadic) Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset 00y00m05d 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 13:32:15 +02:00 (CEST) Date last edited 2022-04-07 09:54:03 +02:00 (CEST)

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