Phenotype #0000236371

Individual ID 00311115
Associated disease MDDG
Phenotype details onset infantile, non-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal upper limb and lower limb; no contractures; no scapular winging; no scoliosis; serum creatine kinase 586-1,012 U/L; muscle biopsy dystrophic; EMG myopathic
Diagnosis/Initial dystroglycanopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein α-DG deficiency
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 2020-09-18 13:35:42 +02:00 (CEST)
Date last edited N/A

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