Global Variome shared LOVD

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

Phenotype #0000272308 Individual ID 00377144 Associated disease CMT2O Phenotype details muscle weakness (HP:0001324); distal amyotrophy (HP:0003693); motor delay (HP:0001270); lordosis (HP:0003307); no intellectual disability (-HP:0001249) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite CMT 2O Age/Examination 15y (15 years) Age/Diagnosis 15y Age/Onset ? Phenotype/Onset motor delay (HP:0001270) Protein - Owner name Xiangjun Chen Database submission license No license selected Created by Xiangjun Chen Date created 2021-07-12 05:55:50 +02:00 (CEST) Date last edited 2021-07-21 14:20:34 +02:00 (CEST)

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