Rare Disease Library

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

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

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Mixed cryoglobulinemia type II

MC type II

Mixed cryoglobulinemia type III

MC type III

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

MCAHS type 2

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease