Rare Disease Library

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

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

Alexander disease type I

AxD type I

Alexander disease type II

AxD type II

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

Autosomal dominant proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · Kugelberg-Welander disease

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of adult

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · Kugelberg-Welander disease

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Kugelberg-Welander disease · SMA

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Generalized bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

Isolated focal cortical dysplasia type I

FCD type I

Isolated focal cortical dysplasia type Ia

FCD type Ia

Isolated focal cortical dysplasia type Ib

FCD type Ib

Isolated focal cortical dysplasia type Ic

FCD type Ic

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Mixed cryoglobulinemia type II

MC type II

Mixed cryoglobulinemia type III

MC type III

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Kugelberg-Welander disease · SMA

Proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

Scapuloperoneal spinal muscular atrophy

Kugelberg-Welander disease · Neurogenic scapuloperoneal amyotrophy, New England type

Spinal muscular atrophy associated with central nervous system anomaly

Kugelberg-Welander disease · SMA

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

Spinal muscular atrophy with respiratory distress type 2

Diaphragmatic spinal muscular atrophy type 2 · Kugelberg-Welander disease

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Kugelberg-Welander disease · SMA

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome

Split cord malformation type I

Diastematomyelia · SCM type I

Spondyloepimetaphyseal dysplasia, Irapa type

SEMD, Irapa type

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX