Rare Disease Library

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

GM2 gangliosidosis, AB variant

Hexosaminidase activator deficiency