Global Variome shared LOVD

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

Phenotype #0000222955 Individual ID 00289325 Associated disease ? Diagnosis/Initial - Diagnosis/Definite SMABF2 Phenotype details see paper; ..., prenatal-onset spinal muscular atrophy, multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, congenital bone fractures Inheritance Familial, autosomal recessive Age/Examination - 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 2020-03-03 16:44:39 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.