Global Variome shared LOVD

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Phenotype #0000301384 Individual ID 00409267 Associated disease HMN Phenotype details see paper; ..., abnormal gait; distal weakness upper limbs 3, 3, 3; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 1, 1; proximal weakness lower limbs 5, 4; muscle atrophy upper and lower limbs; no hyperpathia upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; claw hands; pes cavus; foot drop; Charcot-Marie-Tooth examination score 9 Diagnosis/Initial distal hereditary motor neuropathy Inheritance Familial, autosomal dominant Diagnosis/Definite HMN9 Age/Examination 53y (53 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset abnormal gait Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-05-06 10:54:19 +02:00 (CEST) Date last edited N/A

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