VIBOS
MCID: VSS003
MIFTS: 21
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Vissers-Bodmer Syndrome (VIBOS)
Categories:
Genetic diseases
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OMIM® :
57
Vissers-Bodmer syndrome (VIBOS) is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy. The phenotype is highly variable: some individuals have only mild learning difficulties, whereas others have severe cognitive impairment with IQ in the 50s. Many patients have behavioral abnormalities, including autism spectrum disorder, ADD, ADHD, obsessive-compulsive disorder, and impulsivity. Other common features include growth impairment abnormalities, hypotonia, and distal skeletal defects, such as foot and hand deformities. Less common features include seizures, brain abnormalities on MRI, feeding problems, and joint hypermobility. Most individuals have dysmorphic facial features, but there is no recognizable gestalt (summary by Vissers et al., 2020). (619033) (Updated 05-Mar-2021)
MalaCards based summary : Vissers-Bodmer Syndrome, is also known as vibos. An important gene associated with Vissers-Bodmer Syndrome is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and sleep disturbance |
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Human phenotypes related to Vissers-Bodmer Syndrome:31 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:619033 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Vissers-Bodmer Syndrome:40
Brain
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Articles related to Vissers-Bodmer Syndrome:
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ClinVar genetic disease variations for Vissers-Bodmer Syndrome:6
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Search
GEO
for disease gene expression data for Vissers-Bodmer Syndrome.
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