Rare Disease Library

Say-Barber-Miller syndrome

Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Autosomal non-syndromic agammaglobulinemia

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

Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency

CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency · Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Non-syndromic agammaglobulinemia

Non-syndromic hypogammaglobulinemia

Osteopetrosis-hypogammaglobulinemia syndrome

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

Syndromic agammaglobulinemia

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome