Acromegaly
Achromatopsia CNGB3
Alport syndrome
Antibody-mediated rejection (AMR) in kidney transplantation
Autoinflammatory syndromes
Congenital myasthenic syndromes
Creatine deficiency
Disorders of puberty and reproduction
Dravet syndrome
Endogenous cushings syndrome
Eosinophilic esophagitis
Fragile X syndrome
Gaucher disease
Gaucher disease type 3
Hereditary inclusion body myopathy
Hunter syndrome
Hypoparathyroidism
LPL deficiency
Lysosomal storage disease
Methylmalonic acide mia
Morquio B
Myositis
Myotubular myopathy
Neuromyelitis optica
Nontuberculous mycobacteria lung infection
Partial or generalised epilepsy with seizure clusters
Pemphigus vulgaris
Pompe disease (late onset)
Rett syndrome
Sarcoidosis
Seizure clustures
Short bowel syndrome
Transverse myelitis
Tuberous sclerosis complex
X-linked retinoschisis | 