Global Variome shared LOVD

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

Phenotype #0000233018 Individual ID 00307213 Associated disease FADS Phenotype details antenatal onset; hypoplasia musculature; elbow flexion contracture; knee flexion contracture; hip contracture; pterygium; cystic hygroma; dextrotransposition great arteries; ventricular septal defect hypoplastic left heart; abnormal cerebral morphology Diagnosis/Initial fetal akinesia deformation sequence Inheritance Familial, autosomal recessive 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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