Global Variome shared LOVD

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Phenotype #0000290966 Individual ID 00397839 Associated disease CMT Phenotype details Vocal cord hoarseness (HP:0001604); delayed motor development (HP:0001270); 5y-gait disturbance (HP:0001288); frequent falls during walking (HP:0002359); decreased vibration sense (HP:0002495); decreased position sensation; feet disformities; decreased deep tendon reflexes (HP:0001315); sensory loss (HP:0002936) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset 05y Phenotype/Onset - 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 11:23:41 +01:00 (CET) Date last edited 2021-12-29 13:33:28 +01:00 (CET)

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