Genetics

Riboflavin transporter deficiency neuronopathy

Myostatin-related muscle hypertrophy

CDKN2A gene

Vitiligo

Osteoarthritis

X-linked sideroblastic anemia and ataxia

SCNN1A gene

Early-onset myopathy with fatal cardiomyopathy

AKR1D1 gene

NAGS gene

VWF gene

KRT6A gene