Gamuts

Refsum disease

Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). [Source: Wikipedia ]

OrphaNet reference
Refsum disease 
May Cause
Acute heart failure
Atrioventricular conduction abnormality
Brachydactyly
Congenital cardiomyopathy
Congenital heart disease
Congenital short hands and feet
Optic atrophy
Retinopathy
Short metacarpal
Short metatarsal
OrphaNet reference
Refsum disease 
May Cause
Acute heart failure
Atrioventricular conduction abnormality
Brachydactyly
Congenital cardiomyopathy
Congenital heart disease
Congenital short hands and feet
Optic atrophy
Retinopathy
Short metacarpal
Short metatarsal


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