Global Variome shared LOVD

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Phenotype #0000357236 Individual ID 00472426 Associated disease HL Phenotype details see paper; ..., normal pregnancy, normal delivery; no hypotonia; delayed sitting; 19m-walk; no ataxia; no tremor; dysmetria; dysarthria; impaired fine motor skills, frequent falling; speech delay (1y); no intellectual disability; impaired social interactions, impaired decision making; learning difficulties; 1m-moderate bilateral sensorineural deafness; normal ears; strabism; 5y4m-MRI brain short mesencephalon, thin pons, small protuberance with abnormal signal, accentuation bulbo-protuberantial groove, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal, absence of dorsal transverse pontine fibers and medial lemniscus Diagnosis/Initial hearing loss Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 3y6m (3 years, 6 months) Age/Diagnosis - Age/Onset 1m 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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