Global Variome shared LOVD

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

Phenotype #0000174471 Individual ID 00234049 Associated disease WRWF Phenotype details urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (1); intellectual disability (HP:0001249) (1); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); camptodactyly (HP:0001215) (1) Diagnosis/Initial arthrogryposis multiplex congenita, intellectual disability Inheritance Isolated (sporadic) Diagnosis/Definite WRWF Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-05-04 10:03:34 +02:00 (CEST) Date last edited N/A

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