Global Variome shared LOVD

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Phenotype #0000348050 Individual ID 00460321 Associated disease SIHIWES Phenotype details weight 4.8y 19.1 kg (76%), OFC 4.8y 53.5 cm (SD +2); motor delay; speech delay; no behavioral anomalies; hypotonia; MRI brain normal pineal cyst which remained unchanged, otherwise normal; no hearing loss; left optic nerve hypoplasia; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies Diagnosis/Initial Sifrim-Hitz-Weiss syndrome Inheritance Unknown Diagnosis/Definite SIHIWES Age/Examination 5.8y 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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