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Kleefstra syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


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Mondo Description Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0012455:  Kleefstra syndrome
GARD:0008672: 
OMIMPS:610253: 
Orphanet:261494: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)