Phenotype #0000321853

Individual ID 00431248
Associated disease NDD
Diagnosis/Initial diabetes, neurodegeneration
Diagnosis/Definite ACPHD
Phenotype details see paper; ..., small height (0.25), low weight (0.10), reduced BMI (0.25-0.50); 15y-diabetes, insulin treatment; 24y-hypacusis; 39y-gait disturbance; afferent ataxia; lower-limb areflexia; no Babinski sign; motor evoked potential not evoked to all limbs, tibial sensory evoked potential not evoked
Inheritance Familial, autosomal recessive
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-02-05 09:33:37 +01:00 (CET)
Date last edited 2023-02-05 09:47:15 +01:00 (CET)

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