Vissers-Bodmer Syndrome (VIBOS)

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OMIM® 57 619033

SNOMED-CT via HPO 68 128613002 161832001 162294008 199612005 22033007 224958001 228156007 229721007 237836003 246545002 247578003 248200007 248328003 248342006 249768009 262285001 263681008 271611007 282020008 29164008 30915001 313307000 32003007 367494004 398206004 398302004 49550006 53888004 62415009 8011004 84757009 89362005 91138005 91175000 more

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

Clinical features from OMIM®:

619033 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Vissers-Bodmer Syndrome

Search GEO for disease gene expression data for Vissers-Bodmer Syndrome.