Kleefstra syndrome;
9q Subtelomeric deletion syndrome

Kleefstra syndrome, also known as the 9q subtelomeric deletion syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. About 75% of Kleefstra syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation.

Developmental disorder; Autism

EHMT1 [HSA:79813] [KO:K11420]

PMID:21910222

Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T

Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.

Am J Med Genet A 155A:2409-15 (2011)

PMID:20945554

Kleefstra T, Nillesen WM, Yntema HG

Kleefstra Syndrome

(1993)