Global Variome shared LOVD

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Phenotype #0000348039 Individual ID 00460310 Associated disease SIHIWES Phenotype details height 2y 86 cm (36%), weight 2y 17.6 kg (SD +3.1), OFC 2y 51 cm (95%); motor delay, 1y-crawl, 16m-pull to stand, 21m-walk, 2y-not running, delayed fine motor skills; speech delay, 2y-babbles and noises, no words; no behavioral anomalies; hypotonia; MRI brain normal; bilateral moderate/severe conductive and sensorineural hearing loss; Right sided Horner syndrome; ECG normal; Undescended testes, micropenis; testosterone treatment; Small hands and feet, tapering fingers; no dental anomalies, no palatal anomalies; feeding problems; Tongue tie repaired; feeding issues -poor swallowing with choking, eats mashed foods; hyperphagia and reduced satiety; 9m-persistent wet cough, multiple courses of abx Diagnosis/Initial Sifrim-Hitz-Weiss syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SIHIWES Age/Examination 2y (2 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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