| Metadata | |
|---|---|
| ID | DOID:0081397 |
| Name | Vissers-Bodmer syndrome |
| 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/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |