Phenotype #0000357232

Individual ID 00472422
Associated disease HL
Phenotype details see paper; ..., normal pregnancy, normal delivery; 30m-walk; very slight ataxia; tremor; dysmetria; no dysarthria, language delay; no intellectual disability; normal behavior; normal but vocationnal schooling; stable development; 3y-mild-moderate bilateral sensorineural deafness; normal ears; no ophthalmological anomalies; 42y-MRI brain short mesencephalon, small triangular protuberance with linear signal on sagittal sections (hyposignal T1, hypersignal T2), laterally enlarged medulla, with anterior cleft, slight dysplasiavermis, subtle dysplasia 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 Unknown
Diagnosis/Definite -
Age/Examination 42y (42 years)
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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