Global Variome shared LOVD

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Phenotype #0000357231 Individual ID 00472421 Associated disease HL Phenotype details see paper; ..., normal pregnancy, normal delivery; no hypotonia; 9m-sit; 15m-walk; ataxia; tremor; dysmetria; no dysarthria; delayed oral/written language development; no intellectual disability; normal behavior; normal schooling with educational adjustments; stable development; 3y-severe bilateral sensorineural deafness, many otitis before diagnosis; normal ears; oculomotor apraxia, hypermetropia; 3y-MRI brain short mesencephalon, small protuberance with linear T1 hypointense/T2 hyperintense signal abnormality, laterally enlarged medulla, with anterior cleft, small vermis (widening fissures), subtle dysplasia cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal Diagnosis/Initial hearing loss, neurodevelopmental disorder Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset 3y 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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