17q2131 microdeletion syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description 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_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (Human Disease Ontology, DOID_0050880)
External Link http://www.omim.org/entry/610443
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Genes

1 genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
KANSL1 KAT8 regulatory NSL complex subunit 1