Rare Disease Library

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

Properdin deficiency

Rare deficiency anemia