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Disease Ontology Browser
Kleefstra syndrome (DOID:0060352)
Synonyms: 9q34 deletion syndrome; 9q subtelomeric deletion syndrome; 9q-syndrome
Alt IDs: OMIM:610253, MESH:C563043, ORDO:261494, UMLS_CUI:C0795833
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory