label: Microcephaly-Capillary Malformation Syndrome
label_lc: microcephaly-capillary malformation syndrome
description: "An autosomal recessive condition caused by mutation(s) in the STAMBP gene, encoding STAM-binding protein. It is characterized by severe microcephaly, diffuse cutaneous capillary malformations, refractory epilepsy, and developmental delay."