Rare Disease Library

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Agammaglobulinemia-skin involvement-failure to thrive syndrome

Hypogammaglobulinemia-skin involvement-failure to thrive syndrome · Syndromic agammaglobulinemia due to ZIP7 deficiency

ATP6AP1-CDG

ATP6AP1-congenital disorder of glycosylation · ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation

Autosomal non-syndromic agammaglobulinemia

Non-syndromic agammaglobulinemia, non-Bruton type · Non-syndromic hypogammaglobulinemia

Non-syndromic agammaglobulinemia

Non-syndromic hypogammaglobulinemia

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7

Say-Barber-Miller syndrome

Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome