UBR7

Professionals

Li-Campeau syndrome (LICAS) is characterized by global developmental delay, intellectual disability, epilepsy, dysmorphic facial features, hypothyroidism, and anomalies of the cardiac and genital systems. It is inherited in an autosomal recessive manner. Homozygous and compound heterozygous mutations in the UBR7 gene were found in seven individuals from six unrelated families.