Phenotype #0000166801

Individual ID	00218358
Associated disease	RSMD
Phenotype details	see paper; delay attainment motor milestones since early infancy, reduced muscle bulk, neck stiffness with restriction neck flexion movements, rigid spine, proximal limb-girdle and intercostal weakness, hyperlaxity metacarpophalangeal joints, bilateral shoulder and ankle contractures, with diminished muscle stretch reflexes
Diagnosis/Initial	collagen VI associated muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RSMD-1
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	low-grade fever, cough followed by shallow breathing efforts and decline in sensorium
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-01-23 22:01:08 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD