Human genes for Kleefstra syndrome
Kleefstra syndrome [DOID:0060352]
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: Kleefstra syndrome, DOID:0060352, Kleefstra disease, Kleefstra disorder, Kleefstra syndromes ...