Phenotype #0000230504

Individual ID 00301345
Associated disease ?
Diagnosis/Initial West syndrome
Diagnosis/Definite DEE97
Phenotype details eye-tracking; speech, two-word sentences; stable head and neck control, rolling-over, crawled; sitting alone, walked; intellectual disability; autistic features; 4m onset West syndrome; no dysmorphology; no cardiac features; no motor/neurological findings; hand wringing; no skeletal anomalies; MRI brain normal
Inheritance Isolated (sporadic)
Age/Examination 01y09m (1 year, 9 months)
Age/Diagnosis -
Age/Onset 00y04m
Phenotype/Onset -
Protein -
Tumor/MSI ItaiToshiyuki
Diagnosis/Criteria -
Owner name Toshiyuki Itai
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Toshiyuki Itai
Date created 2020-06-12 13:26:03 +02:00 (CEST)
Date last edited 2022-04-07 10:00:54 +02:00 (CEST)

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