Global Variome shared LOVD

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Phenotype #0000230494 Individual ID 00301343 Associated disease ? Diagnosis/Initial seizure Diagnosis/Definite DEE97 Phenotype details 12m-eye-tracking, 12m-social smile; no speech, no two-word sentences; 7m-stable head and neck, never crawled; 2y-sitting alone, never walked; intellectual disability; no autistic features; 7.5m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; hypotonia; tremor; mild thoracic scoliosis; nystagmus, astigmatism; swallowing issue; MRI brain normal Inheritance Isolated (sporadic) Age/Examination 01y08m (1 year, 8 months) Age/Diagnosis - Age/Onset 00y07m Phenotype/Onset - Protein - Tumor/MSI ItaiToshiyuki 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 13:00:20 +02:00 (CEST) Date last edited 2022-04-07 09:30:26 +02:00 (CEST)

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