syndromic intellectual disability congenital agammaglobulinemia skin disorder agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/agammaglobulinemia_microcephaly_and_severe_dermatitis https://www.malacards.org/card/agammaglobulinemia_microcephaly_craniosynostosis_severe_dermatitis_syndrome OMIM:610483 MESH:C538055 A syndrome that 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. SCTID:722281001 UMLS:C1864848 Orphanet:83617 GARD:0010011 MEDGEN:351236 MONDO:0012508 multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic agammaglobulinemia