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DOID:0060352 - Kleefstra syndrome
Disease Ontology Definition:A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
Synonyms: 9q subtelomeric deletion syndrome, 9q-syndrome, 9q34 deletion syndrome,
Echinobase Genes
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| MIM:610253 - kleefstra syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)