Global Variome shared LOVD

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Phenotype #0000357233 Individual ID 00472423 Associated disease HL Phenotype details see paper; ..., normal pregnancy, normal delivery; no ataxia; no tremor; no dysmetria; no dysarthria; normal speech; no intellectual disability; normal behavior; schooling difficulties; stable development; 7y-mild bilateral sensorineural deafness; normal ears; 38y-MRI brain short mesencephalon, small protuberance with abnormal T1-w hypointense/T2-w hyperintense oblong area on sagittal sections, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, normal cochlea, normal semi-circular canal Diagnosis/Initial hearing loss Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 38y (38 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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