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DOID:0070075 - Kleefstra Syndrome
Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
Synonyms: 9q subtelomeric deletion syndrome, 9q-syndrome, chromosome 9q34.3 deletion syndrome,
Echinobase Genes :
MIM:610253 - kleefstra syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee