obsolete Koolen-De Vries syndrome

Term ID

DOID:0070076

Synonyms

• chromosome 17q21.31 deletion syndrome
• microdeletion 17q21.31 syndrome

Definition

An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31. https://www.ncbi.nlm.nih.gov/pubmed/19447831

References

Obsolete

true

Secondary ID:

Merged into

Koolen de Vries syndrome

Ontology

  ( DOID:0070076 )