OBO ID: DOID:0050880
Term Name: Koolen de Vries syndrome Search Ontology:
Synonyms:
  • 17q21.31 microdeletion syndrome
  • KANSL1-related intellectual disability syndrome
  • KdVS
  • Koolen-De Vries syndrome
Definition: 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. (9)
References:
Ontology: Human Disease   ( DOID:0050880 )
Relationships
is a type of:
OTHER Koolen de Vries syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KANSL1 Koolen-De Vries syndrome 610443
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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