| Metadata | |
|---|---|
| ID | 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://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/22544363, http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/19447831, https://www.ncbi.nlm.nih.gov/pubmed/22544367, http://omim.org/entry/610443, http://www.17q21.com/en/ |
| Xrefs | |
| 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] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has symptom some muscle weakness |