You are using an outdated browser. Please upgrade your browser to improve your experience.

agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.
Mondo Term and Equivalent IDs
MONDO:0012508:  agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
GARD:0010011: 
MESH:C538055: 
Orphanet:83617: 
SCTID:722281001: 
UMLS:C1864848: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found