Human genes for Koolen de Vries syndrome
Koolen de Vries syndrome [DOID:0050880]
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
Synonyms: Koolen de Vries syndrome, DOID:0050880, Koolen de Vries disease, Koolen de Vries disorder, Koolen de Vries syndromes ...