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Metadata
DOID DOID:0050880
Name 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.
http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome, http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome, http://omim.org/entry/610443, http://www.17q21.com/en/, http://www.ncbi.nlm.nih.gov/books/NBK24676/, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169, https://www.ncbi.nlm.nih.gov/pubmed/19447831, https://www.ncbi.nlm.nih.gov/pubmed/22544363, https://www.ncbi.nlm.nih.gov/pubmed/22544367
Xrefs

GARD:10727

OMIM:610443

ORDO:96169

Alternateids

DOID:0070076

Subsets

DO_FlyBase_slim

DO_rare_slim

Synonyms

17q21.31 microdeletion syndrome [EXACT]

KANSL1-related intellectual disability syndrome [EXACT]

KdVS [EXACT]

Koolen-De Vries syndrome [EXACT]

Relationships

is_a syndrome

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