Rare Disease Library

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

Carvajal syndrome

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

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA