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Erlend Félög

Ataxia Telangiectasia

Chronic Granolomatus disease

Diamond Blackfan Anemia

Velio-cardio-facial syndrome/Di George syndrome

Autosomal resessive polycystic kidney disease

Joubert Syndrome

Polycystic kidney disease

Nephrotic syndrome

Cystic fibrosis

Autoimmune Hepatitis

Bilary Atresia (Gallvega atresia)

Eosinophilic esophagitis

Hirschsprungs disease

Gastro-oesophageal reflux disease (without oestophagitis) nærist ekki

Short bowel syndrome

Beckwith-wiederman syndrome

Congenital adrenal hyperplasia eða Adrenogenital

Hypoparathyriodism

Nesidioblastiosis/Hyperinsulinsinus/Hypoglycemia

Noonan-heilkenni

Panhypopituitarism

Prader-Willi syndrome

Turner Syndrome

Angelman Syndrome

Ataxia cerebellae

CMT / Charcot Marie Tooth

Dravet syndrome

Duchenne Muscular Dystrophy

Dandy Walker syndrome

MS, Multiple Sclerosis

NBIA (Neurodegeneration with Brain Iron Accumulation) Type 1

NBIA (Neurodegeneration with Brain Iron Accumulation) Type 2A

Neurofibromatosis (NF1)

Tuberous Sclerosis (TSC)

http://cfcsyndrome.org/

NORDs Rare Disease Database:

NIHs Genetic and Rare Diseases Information Center (GARD):

NORDs Physician Guides: