Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000243111 Individual ID 00324602 Associated disease CMT Phenotype details distal paresis, atrophy of lower legs, steppage gait, no sensory disturbances, nystagmus, reflexes arms normal to brisk, absent Achilles tendon jerks, brisk knee tendon reflex, originally diagnosed with multiple sclerosis; EMG documented as severe sensorimotor axonal polyneuropathy, no recordings available Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2N Age/Examination 62y (62 years) Age/Diagnosis - Age/Onset 29y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-20 14:20:17 +01:00 (CET) Date last edited N/A

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