Phenotype #0000267850

Individual ID	00372536
Associated disease	MD
Phenotype details	onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy lower limbs; no facial weakness; ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.75-0.80; no intellectual disability; normal CK; EMG normal; no cardiac disease
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	35y (35 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