Global Variome shared LOVD

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Phenotype #0000357234 Individual ID 00472424 Associated disease HL Phenotype details see paper; ..., normal pregnancy, normal delivery; no dysarthria; 15y-migraine (2-3 times a week); no intellectual disability; normal behavior; schooling difficulties; 3y-moderate bilateral sensorineural deafness, failed perinatal hearing screening; normal ears; 55y-MRI brain short mesencephalon, flattened protuberance with abnormal signal, laterally enlarged medulla, with anterior cleft, normal vermis, normal cerebellar hemispheres Diagnosis/Initial hearing loss Inheritance Unknown Diagnosis/Definite - Age/Examination 56y (56 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-12 09:41:25 +01:00 (CET) Date last edited N/A

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