|
LICAS
MCID: LCM001
MIFTS: 9
|
Li-Campeau Syndrome (LICAS)
Categories:
Genetic diseases, Neuronal diseases
|
|
|
|
MalaCards integrated aliases for Li-Campeau Syndrome:
Name: Li-Campeau Syndrome
57
Classifications: |
|
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 05-Mar-2021)
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). |
|
|
|
|
Interventional clinical trials:
|
Articles related to Li-Campeau Syndrome:
|
|
|
|
Search
GEO
for disease gene expression data for Li-Campeau Syndrome.
|
|
|
|