Global Variome shared LOVD

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Phenotype #0000321851 Individual ID 00431246 Associated disease NDD Diagnosis/Initial diabetes, neurodegeneration Diagnosis/Definite ACPHD Phenotype details see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI ((0.05-0.10); 18y-diabetes, insulin treatment; 6y-hypacusis; 6y-gait disturbance; afferent ataxia; no lower-limb areflexia; Babinski sign; motor evoked potential not evoked to all limbs, tibial sensory evoked potential not evoked Inheritance Familial, autosomal recessive Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-05 09:33:37 +01:00 (CET) Date last edited N/A

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