Global Variome shared LOVD

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

Phenotype #0000347500 Individual ID 00459424 Associated disease MYOP Diagnosis/Initial - Diagnosis/Definite - Phenotype details rapidly progressive congenital myopathy characterized by severe hypotonia and axial muscle weakness Inheritance Familial, autosomal recessive Age/Examination 2 Age/Diagnosis 3 Age/Onset 00y Phenotype/Onset hypotonia Protein - Owner name Barbora Lauerova Database submission license Creative Commons Attribution 4.0 International Created by Barbora Lauerova Date created 2024-12-27 19:08:47 +01:00 (CET) Date last edited 2024-12-31 09:20:25 +01:00 (CET)

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