Global Variome shared LOVD

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

Phenotype #0000319152 Individual ID 00428240 Associated disease ? Diagnosis/Initial fetal akinesia Diagnosis/Definite - Phenotype details termination pregnancy 28w; reduced fetal movements, polyhydramnios, scalp oedema, prenasal oedema, pulmonary hypoplasia; contractures fingers, wrists, talipes equinovarus (bilateral); micrognathia and retrognathia (autopsy not performed) Inheritance Familial, autosomal recessive Age/Examination <0d Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-24 16:09:43 +01:00 (CET) Date last edited N/A

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