Global Variome shared LOVD

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Phenotype #0000233032 Individual ID 00307227 Associated disease ? Diagnosis/Initial fetal akinesia deformation sequence, amyoplasia Diagnosis/Definite - Phenotype details arthrogryposis; multiplex congenita central hypotonia; feeding difficulties; bilateral cryptorchidism Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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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