DISEASES

Disease-gene associations mined from literature

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 ...