Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000348045 Individual ID 00460316 Associated disease SIHIWES Phenotype details height 22y 157cm (17%), weight 22y 70 kg (78%), OFC 22y 58cm (SD +3.3); motor delay; speech delay; mild intellectual disability; no behavioral anomalies; no hypotonia; MRI brain normal; conductive and sensorineural deafness (bilateral), needing hearing aids; strabismus needing surgery; atrial septal defect and anomalous pulomary venous return; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies Diagnosis/Initial Sifrim-Hitz-Weiss syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SIHIWES Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-23 10:07:12 +01:00 (CET) Date last edited N/A

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