Global Variome shared LOVD

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Phenotype #0000290964 Individual ID 00397837 Associated disease CMT Phenotype details Full-term pregnancy, 15m-unable to walk without support; 2,5y-gait disturbance (HP:0001288); absent deep tendon reflexes (HP:0001284); feet disformities; sensory loss (HP:0002936) Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite HMSNR Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 01y Phenotype/Onset 15m-unable walking without support Protein - Owner name Sarah El-Bestawi Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sarah El-Bestawi Date created 2021-12-29 10:25:01 +01:00 (CET) Date last edited 2022-01-06 14:40:42 +01:00 (CET)

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