Phenotype #0000267838

Individual ID	00372524
Associated disease	MD
Phenotype details	onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 8y-loss of ambulation; contractures ankles/elbows; normal muscle trophism; facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.57; moderate intellectual disability; raised CK 1.3x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-09 13:06:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD