Rare Disease Library

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Carvajal syndrome

Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

Alexander disease type I

AxD type I

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Isolated focal cortical dysplasia type I

FCD type I

Mixed cryoglobulinemia type II

MC type II

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

Split cord malformation type I

Diastematomyelia · SCM type I