Rare Disease Library

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

Alexander disease type I

AxD type I

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

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 glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

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

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Split cord malformation type I

Diastematomyelia · SCM type I

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV