Phenotype #0000321854

Individual ID 00431249
Associated disease NDD
Diagnosis/Initial diabetes, neurodegeneration
Diagnosis/Definite ACPHD
Phenotype details see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI (0.25-0.50); 14y-diabetes, insulin treatment; 2y-hypacusis; 2y-gait disturbance; afferent ataxia; lower-limb areflexia; Babinski sign; hearing impairment
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 09:55:03 +01:00 (CET)

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