OMIM®:
57
Li-Campeau syndrome (LICAS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy (summary by Li et al., 2021). (619189) (Updated 08-Dec-2022)
MalaCards based summary:
Li-Campeau Syndrome, is also known as licas. An important gene associated with Li-Campeau Syndrome is UBR7 (Ubiquitin Protein Ligase E3 Component N-Recognin 7). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
UniProtKB/Swiss-Prot:
73
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, ptosis, hypothyroidism, and variable cardiac and genital anomalies. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy.
