Global Variome shared LOVD

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Phenotype #0000319145 Individual ID 00428233 Associated disease ? Diagnosis/Initial fetal akinesia Diagnosis/Definite SALMY Phenotype details reduced fetal movements, intrauterine growth restriction, oligohydramnios; multiple joint contractures; dysmorphism; muscular hypotonia, generalised decreased muscle bulk; respiratory insufficiency, non-invasive ventilation (post partum for 2 weeks) Inheritance Familial, autosomal recessive Age/Examination 7m 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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