Global Variome shared LOVD

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

Phenotype #0000272309 Individual ID 00377145 Associated disease CMT2O Phenotype details distal amyotrophy (HP:0003693); muscle weakness (HP:0001324); motor delay (HP:0001270); pes cavus (HP:0001761); no intellectual disability (-HP:0001249) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite CMT 2O Age/Examination 14y (14 years) Age/Diagnosis 14y Age/Onset - Phenotype/Onset - Protein - Owner name Xiangjun Chen Database submission license No license selected Created by Xiangjun Chen Date created 2021-07-12 08:41:56 +02:00 (CEST) Date last edited 2021-07-21 14:21:34 +02:00 (CEST)

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