Global Variome shared LOVD

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Phenotype #0000357237 Individual ID 00472427 Associated disease HL Phenotype details see paper; ..., normal pregnancy, normal delivery; did not pass neonatal hearing screening; no hypotonia; normal sitting; 18m-walk; no ataxia; no tremor; no dysmetria; no dysarthria; 3.y3m-speech therapy, after speech clear; no intellectual disability; normal behavior; attends regular school, normal, no special needs; development age appropriate; 7m-moderate symmetric bilateral sensorineural "flat" hearing loss, failed neonatal hearing screening, problems with otitis media with effusion; normal ears; bilateral epicanthal folds; single palmar crease left hand; 2y-MRI brain short mesencephalon, flattened protuberance with abnormalT1-w hypointense/T2-w hyperintense oblong area on sagittal sections, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, bilateral hypoplasia cochlear nerve with hypoplastic internal auditory canal, normal cochlea, normal semi-circular canal Diagnosis/Initial hearing loss Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset 3m 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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