Phenotype #0000321852

Individual ID 00431247
Associated disease NDD
Diagnosis/Initial diabetes, neurodegeneration
Diagnosis/Definite ACPHD
Phenotype details see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI ((<0.03); 18y-diabetes, insulin treatment; 27y-hypacusis; 34y-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 34y (34 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 09:44:20 +01:00 (CET)

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