Phenotype #0000346172

Individual ID 00457714
Associated disease ?
Diagnosis/Initial neuropathy
Diagnosis/Definite LCHADD
Phenotype details see paper; ..., neuropathy (NLG N. medianus >38 m/s), distal muscle atrophy, exercice intolerance
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis 9y
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2024-11-16 12:42:20 +01:00 (CET)
Date last edited N/A

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