Phenotype #0000082289

Individual ID 00104357
Associated disease RSMD
Phenotype details myopathic with cores; 11y-scoliosis, rigid spine syndrome; 18y-proximal muscle weakness, no progression, walk 3000–4000m; 13y-ventilation 2-4h/night; FVC 13y 18%
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset hypotonia, lack of head control
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-02-22 18:29:25 +01:00 (CET)
Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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