Global Variome shared LOVD

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

Phenotype #0000232998 Individual ID 00307193 Associated disease DA Phenotype details skeletal muscle atrophy; shoulder flexion contracture; elbow flexion contracture; knee flexion contracture; hip contracture; bilateral talipes equinovarus; absent palmar crease; stiff fingers; interphalangeal joint contracture of finger Diagnosis/Initial distal arthrogryposis Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Gianina Ravenscroft Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-05 17:01:04 +02:00 (CEST) Date last edited 2020-10-27 08:49:44 +01:00 (CET)

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