Global Variome shared LOVD

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

Phenotype #0000174466 Individual ID 00234044 Associated disease WRWF Phenotype details drooling (HP:0002307) (2); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (2); retardation of motor development (HP:0001263) (2); intellectual disability (HP:0001249) (2); spasticity (HP:0001257) (2); seizures (HP:0001250) (1); Diagnosis/Initial arthrogryposis multiplex congenita, intellectual disability Inheritance Familial, X-linked recessive Diagnosis/Definite WRWF Age/Examination - 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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