Phenotype #0000082292

Individual ID 00104360
Associated disease RSMD
Phenotype details myopathic with multiminicores; 7y-scoliosis, 8y-rigid spine syndrome; 13y-proximal muscle weakness, no progression, walk 1000–2000m; not ventilated; FVC 11y 65%
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset hypotonia, motor devevelopment delay
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 18:27:00 +01:00 (CET)

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