Phenotype #0000321987

Individual ID 00431392
Associated disease MCLDS
Phenotype details see paper; ..., 30y-acanthocytosis, McLeod Kell phenotype; 50y-problems walking, leg weakness; 55y-seizure; 56y-occasional auras, tongue biting, bruxism, leg restlessness, memory problems, very mild leg chorea, speech mildly dysarthric, power/tone diminished throughout, deep tendon reflexes absent
Diagnosis/Initial acanthocytosis
Inheritance Familial, X-linked recessive
Diagnosis/Definite MCLDS
Age/Examination 56y (56 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2023-02-12 11:30:37 +01:00 (CET)
Date last edited N/A

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