Vissers-Bodmer syndrome

Term ID

DOID:0081397

Synonyms

Definition

A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. https://pubmed.ncbi.nlm.nih.gov/32553196/

References

• OMIM:619033

Ontology

Human Disease   ( DOID:0081397 )