Global Variome shared LOVD

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Phenotype #0000232721 Individual ID 00306893 Associated disease CAAHD Inheritance Familial, autosomal recessive Phenotype details distinct congenital arthrogryposis, prolonged survival after birth; autopsy revealed typical neurogenic muscle atrophy, loss of anterior horn cells spinal cord Diagnosis/Initial severe infantile spinal muscular atrophy Age/Examination - Diagnosis/Definite CAAHD 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 2020-07-21 21:49:16 +02:00 (CEST) Date last edited 2020-07-21 21:52:04 +02:00 (CEST)

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