Global Variome shared LOVD

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Phenotype #0000159668 Individual ID 00211186 Associated disease WDSTS Inheritance Isolated (sporadic) Diagnosis/Initial Wiedemann-Steiner syndrome Birth_Details The Chinese boy was 7 years old now, he was born at 36 weeks’ gestation hypotonia was noted Diagnosis/Definite Wiedemann-Steiner syndrome Age/Examination 07y (7 years) Height-Weight-OFC - Phenotype details small palpebral fissures, ptosis, telecanthus, and epicanthus inversus ,thick eyebrows、hair and long philtrum、strabismus and amblyopia,low hairline,narrow high palate, abnormal and low-set ears, hypertrichosis back. Age/Diagnosis 07y Age/Onset - Phenotype/Onset - Protein - Owner name Jinxiu Liu Database submission license Creative Commons Attribution 4.0 International Created by Jinxiu Liu Date created 2019-01-03 09:45:52 +01:00 (CET) Date last edited 2019-01-09 15:49:51 +01:00 (CET)

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