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Rare genetic disorders

Find help and support for a range of rare health conditions.


Select a category:

Alkaptonuria (AKU)

Alstrom Syndrome

Angelman syndrome

Barth syndrome

Batten disease

Charcot Marie Tooth (CMT)

Congenital diaphragmatic hernia

Ehlers-danlos syndrom (EDS)

Encephalitis

Gaucher disease

Genetic leukodystrophy

Guillain-Barre Syndrome

Haemochromatosis

Mitochondrial disease

Mucopolysaccharidosis (MPS)

Neurofibromatosis

Niemann-Pick disease

Pituitary gland conditions

Primary immunodeficiencies

PSP and CBD

Rare diseases (general)

Rare parathyroid conditions

Rett syndrome

Sarcoidosis

Schwannomatosis

Tracheo-oesophageal fistula (TOF)

X linked hypophosphatemia (XLH)