label: Li-Campeau Syndrome
label_lc: li-campeau syndrome
description: "An autosomal recessive syndromic condition caused by mutations(s) in the UBR7 gene, encoding putative E3 ubiquitin-protein ligase UBR7. It is characterized by global developmental delay, impaired intellectual development, dysmorphic facial features, variable cardiac and urogenital system abnormalites, and hypothyroidism."