Global Variome shared LOVD

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

Phenotype #0000331982 Individual ID 00442635 Associated disease NMD Diagnosis/Initial Congenital myopathy Diagnosis/Definite - Phenotype details Congenital myopathy, increased tone in legs and Babinski reflex, cryptorchidism, congenital contractures, lordosis, hip dysplasia, proximale muscle weakness (limb-girdle), abnormal gait, positive Trendelenburg test, wheelchair-bound Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 18:48:51 +01:00 (CET) Date last edited N/A

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