Rare Disease Library

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

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 III

CDA III · CDA type 3

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

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

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

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

Kugelberg-Welander disease · SMA

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Generalized bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Kugelberg-Welander disease · SMA

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

Proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

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 4

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, Missouri type

SEMD type 2 · SEMD, Missouri type

Syndactyly type 3

SD3 · Syndactyly of fingers 4 and 5

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX