Rare Disease Library

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Congenital generalized lipodystrophy

BSCL · Berardinelli-Seip syndrome

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Osteogenesis imperfecta type 4

OI type 4

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA