Global Variome shared LOVD

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

Phenotype #0000338740 Individual ID 00449565 Associated disease ? Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details see paper; ..., distal arthrogryposis; hypotonia; no myopathic facies; triangular facies; facial weakness; limb weakness; bulbar involvement; respiratory involvement; absent reflexes; no scoliosis Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Marcello Scala Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marcello Scala Date created 2024-04-24 17:01:29 +02:00 (CEST) Date last edited 2026-02-25 19:24:50 +01:00 (CET)

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