Global Variome shared LOVD

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

Phenotype #0000232842 Individual ID 00307017 Associated disease DA Phenotype details analysis 12w gestation (antenatal ultrasound); no small mouth (-HP:0000160); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650);; equinovarus (HP:0001762); ; increased nuchal translucency Diagnosis/Initial distal arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination <0d 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 2020-07-27 19:22:39 +02:00 (CEST) Date last edited N/A

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