Phenotype #0000236372

Individual ID	00311116
Associated disease	MDDG
Phenotype details	onset infantile, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.76; muscle weakness p roximal upper limb and lower limb, axial; proximal upper limb and proximal lower limb and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 2761 U/L; muscle biopsy dystrophic; involvement in lower limbs; EMG myopathic
Diagnosis/Initial	dystroglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	40y (40 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-18 13:35:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD